European Guideline Craniofacial Microsomia

Summary This guideline provides the following chapters:The following recommendations were agreed on: Chapter 3. Diagnostic criteria for craniofacial microsomia 3.1 On which criteria is a child or adult with craniofacial microsomia diagnosed?Terminology It is advised to exclusively use the term craniofacial microsomia. Discard the use of other terms such as Goldenhar syndrome, hemifacial microsomia or auriculo-oculo-vertebral spectrum. Chapter 4.1 Breathing difficulties in craniofacial microsomia 4.1.1 What is the type, prevalence and severity of breathing difficulties in craniofacial microsomia? Since this question does not relate to interventions or diagnostics, only conclusions without any considerations, rationale or recommendations are provided. 4.1.2 What is the policy for screening and monitoring of breathing difficulties (OSA) in patients with craniofacial microsomia? All patients with craniofacial microsomia should be screened with a questionnaire biannually, at least up to the age of six, in the outpatient department for a clinical history of obstructive sleep apnoea. If there is a suspicion of obstructive sleep apnoea based on a questionnaire, a polysomnography (sleep study) has to be performed. All patients who have Pruzansky-Kaban IIb or III mandibles and/or are bilaterally affected have to undergo a polysomnography (sleep study) to screen for obstructive sleep apnoea in the first year of life. 4.1.3 What are the indications and policy for treatment of breathing difficulties (OSA) in patients with craniofacial microsomia? Treatment of children with craniofacial microsomia and obstructive sleep apnoea has to be discussed in a multidisciplinary team. Treatment of children with craniofacial microsomia and obstructive sleep apnoea depends on the age of the child, the severity of symptoms and the level of obstruction. In older children with mild to severe obstructive sleep apnoea, adenotonsillectomy (ATE) may be the treatment of first choice. In young infants and children with craniofacial microsomia and obstructive sleep apnoea non-surgical respiratory support has to be considered to treat obstructive sleep apnoea. In children with craniofacial microsomia and severe obstructive sleep apnoea a tracheostomy has to be considered at all ages. Mandibular distraction osteogenesis (MDO) should be considered to treat patients with severe obstructive sleep apnoea who have a tracheostomy or to reduce the necessity for a tracheostomy or respiratory support. Chapter 4.2 Feeding difficulties in craniofacial microsomia 4.2.1 What is the type, prevalence and severity of feeding difficulties in craniofacial microsomia? Since this question does not relate to interventions or diagnostics, only conclusions without any considerations, rationale or recommendations are provided. 4.2.2 What is the policy for screening and monitoring of feeding difficulties in patients with craniofacial microsomia? Children with craniofacial microsomia should be screened with a questionnaire biannually, at least up to the age of six, and monitored regularly for feeding difficulties by a paediatrician or multidisciplinary team. The WHO or national Growth Charts can be used to monitor growth and screen for feeding difficulties. A speech and language therapist should be involved in patients who require tube feeding. 4.2.3 What are the indications and policy for treatment of feeding difficulties in patients with craniofacial microsomia? Children with craniofacial microsomia with feeding difficulties should be treated by a multidisciplinary team. Feeding strategies are guided by the severity of feeding difficulties. Chapter 4.3 Speech difficulties in craniofacial microsomia 4.3.1 What is the type, prevalence and severity of speech and language difficulties in craniofacial microsomia? Since this question does not relate to interventions or diagnostics, only conclusions without any considerations, rationale or recommendations are provided. 4.3.2 What is the policy for screening and monitoring of speech and language difficulties in patients with craniofacial microsomia? Screen preverbal communication and babbling skills at the age of nine months to decide if intervention is warranted. Evaluate receptive and expressive language skills at the age of two years and biannually until the age of eight years in all patients with craniofacial microsomia. Those identified with difficulties should be referred to their community speech and language therapist service for ongoing intervention. Oral-facial evaluation of structure and function is recommended at each screening consultation to examine any impact of asymmetry on speech production. This should include examination of facial symmetry, lips, dental occlusion and intra-oral examination of tongue movement, dentition, hard palate and soft palate movement on sustained ‘ah’ vowel. Screen patients with tracheostomy for speaking valve suitability or an augmentative and alternative communication system. Social communication skills should be monitored in tangent with all of the afore-mentioned communication skills. Children with craniofacial microsomia and associated cleft palate should be screened annually from 2–5 years by the Cleft-Craniofacial speech and language therapist and should follow the local Cleft Palate Protocol. Velopharyngeal dysfunction should be assessed from the age of two years or when verbal output has emerged. Children with craniofacial microsomia without a cleft palate should also be screened at the age of two years to examine for potential risk of velopharyngeal dysfunction related to their asymmetrical structure. If velopharyngeal dysfunction is identified, these children should follow the same pathway as children with a cleft palate. 4.3.3 What are the indications and policy for treatment of speech and language difficulties in patients with craniofacial microsomia? Recommend early language stimulation for delayed babble onset from nine months. Facilitate receptive and expressive language development using a range of behavioural techniques such as modelling, imitation, repetition and extension. Patients with cleft speech characteristics should have articulation therapy when identified. Direct therapy using an articulation approach is recommended from age three onwards Monitor patients with tracheostomy and speaking valve use on a regular base. Introduce low or high tech augmentative and alternative communication systems to children who are non-verbal or whose speech is unintelligible. These include gestures, signing, symbols, word boards, communication boards and books, as well as Voice Output Communication A such as can be from for communication difficulties is development of non-verbal communication skills of and Chapter difficulties in craniofacial microsomia What is the type, prevalence and severity of difficulties in craniofacial microsomia? Since this question does not relate to interventions or diagnostics, only conclusions without any considerations, rationale or recommendations are provided. What is the policy for screening and monitoring of difficulties in patients with craniofacial microsomia? in all with craniofacial microsomia. If evaluation in an should be the age of three months to in patients with craniofacial microsomia by the age of months. and in patients with craniofacial microsomia and/or cleft palate by the intervention should be the age of months in patients with What are the indications and policy for treatment of difficulties in patients with craniofacial microsomia? to severe with non-surgical or approach and in a multidisciplinary and other and Chapter in craniofacial microsomia What is the type, prevalence and severity of in craniofacial microsomia? Since this question does not relate to interventions or diagnostics, only conclusions without any considerations, rationale or recommendations are provided. What is the policy for screening and monitoring of in patients with craniofacial microsomia? All patients with craniofacial microsomia should be screened at least the development the age of by an and on the to be on a regular What are the indications and policy for treatment of in patients with craniofacial microsomia? Children with to be by a and the development the age of should be in of a should be treated the age of is considered this has to be discussed in a multidisciplinary the and the in the of young children in is of the to be if and the is Chapter in craniofacial microsomia What is the type, prevalence and severity of dental in craniofacial microsomia? Since this question does not relate to interventions or diagnostics, only conclusions without any considerations, rationale or recommendations are provided. What is the policy for screening and monitoring of dental in patients with craniofacial microsomia? Patients with craniofacial microsomia should have dental Patients with craniofacial microsomia should be from age by an a multidisciplinary to dental screening for dental by intra-oral and dental in a at and years of What are the indications and policy for treatment of dental in patients with craniofacial microsomia? treatment can be considered in mild craniofacial microsomia In severe craniofacial microsomia does not treatment should be discussed and in a multidisciplinary on the to or Chapter in craniofacial microsomia What is the type, prevalence and severity of in craniofacial microsomia? Since this question does not relate to interventions or diagnostics, only conclusions without any considerations, rationale or recommendations are provided. What is the policy for screening and monitoring of in patients with craniofacial microsomia? and clinical related to symptoms should be at consultation and as of All patients with craniofacial microsomia who have symptoms or or of should be as as by a Patients should be referred and to the should be when patients are What are the indications and policy for treatment of in patients with craniofacial microsomia? and/or in patients with may be to and to of the A multidisciplinary approach in treatment and is to for these Chapter difficulties in craniofacial microsomia What is the type, prevalence and severity of difficulties in craniofacial microsomia? Since this question does not relate to interventions or diagnostics, only conclusions without any considerations, rationale or recommendations are provided. What is the policy for screening and monitoring of difficulties in patients with craniofacial microsomia? All craniofacial microsomia patients should have to a clinical service with and of craniofacial microsomia. for and screening should such as to and should be from to all craniofacial microsomia patients as a of to screen for the of and/or difficulties. This the and for and should be at age and should to the potential for or support. should of as well as difficulties related to What are the indications and policy for treatment of difficulties in patients with craniofacial and support of children with craniofacial microsomia should have to a clinical service with and of the on support and should be at and at regular and/or difficulties should with local and to the support may be if with Patients with craniofacial microsomia should have to who are with low or difficulties or as a of with in craniofacial microsomia should with local to on to support children who have support and should be provided. is and facial to monitor and The is of the in the multidisciplinary team. recommendations in Chapter Chapter What is the for treatment of and in patients with craniofacial microsomia? and/or in patients with craniofacial microsomia for the treatment of breathing if non-surgical therapy or to non-surgical patients and of the of respiratory following and/or for in patients with If treatment of the in patients with craniofacial microsomia is to or treat is to the the potential and and to the have a of can be It is advised to the treatment of the in patients with craniofacial microsomia in the of other for facial symmetry, soft and treatment of or What is the treatment and for in craniofacial microsomia breathing and sleep apnoea with non-surgical treatment for the of in infants with craniofacial microsomia. Chapter 4.1 Breathing difficulties for a tracheostomy or distraction osteogenesis in infants with and severe who not to non-surgical If the of treatment is to non-surgical treatment distraction Mandibular with should be the age of patients with craniofacial microsomia and severe distraction osteogenesis in A and is to and to occlusion at of the for in patients with craniofacial microsomia until The of early for should be discussed the multidisciplinary and with and is and to monitor and to of and in patients with Chapter What is the for treatment of facial in patients with craniofacial for treatment all patients with craniofacial microsomia with support. all craniofacial microsomia patients with to an treatment of the or should be considered in patients with craniofacial microsomia and of function of the facial the of facial in patients with craniofacial microsomia in the of other movement should by assessed with the at age and What is the treatment for facial in patients with craniofacial microsomia related to and to facial in patients with craniofacial microsomia with of a or and/or or as a treatment for in with craniofacial microsomia is with the of in the if therapy is in patients with craniofacial microsomia and asymmetrical to facial of the if the of treatment with are the use of techniques such as if the of treatment with are not of the to to the high prevalence of of the of the is and to monitor and for facial by using a with a from the age of the use of the to the for patients in is not in or as a the use of to facial in patients with craniofacial microsomia and facial if with is not A facial therapist is of the multidisciplinary team. and and Chapter What is the for treatment of soft in patients with craniofacial microsomia? 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craniofacial microsomia. 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