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Page 268 Lyulcheva-Bennett et al. J Transl Genet Genom 2023;7:259-73 https://dx.doi.org/10.20517/jtgg.2023.33

The importance of early diagnosis
The importance of early diagnosis cannot be overstated, as it paves the way for timely multidisciplinary
[3]
interventions and support . Given the rarity of the condition, access to a specialist multidisciplinary team
(MDT) familiar with MBS is crucial. While a specialist centre might not be near every patient, having a
dedicated MDT can help coordinate care for patients locally, ensuring they receive the best possible support.
Participation in collaborative rare disease networks, where applicable, can further improve patient
experience.

Genetic considerations in MBS
As discussed above, the genetic basis of MBS is potentially extensive. Genetic evaluation plays a pivotal role
in the management of MBS. The potential involvement of multiple genetic factors and their complex
interplay with environmental determinants underscore the importance of not only ruling out alternative
diagnoses but also establishing a comprehensive family pedigree and examining any pertinent features in
the family history. Such evaluations are crucial in providing parents of affected children with accurate
recurrence risks and offering them tailored counselling [Table 2]. All patients with suspected MBS and
multiple congenital anomalies should be offered a chromosome microarray (CMA) as part of a genetic
[41]
assessment. With the increased accessibility of Whole Genome Sequencing (WGS) , patients in some
countries can now also be offered WGS as part of routine clinical care. In the UK, as well as access to WGS,
affected families are also offered the opportunity to participate in research initiatives, such as the National
Genomic Research Library, aiming to further our understanding of rare disorders, such as MBS.

Feeding and communication challenges
Feeding difficulties, commonly associated with MBS and present from birth, often lead to failure to thrive in
affected infants. Neonates with MBS often cannot effectively achieve a suck and may have difficulties in
[42]
coordinating their swallow, putting them at risk of aspiration and its consequences . An early and expert
evaluation of oral motor skills, tongue function, and palatal structure is essential, as is an early feeding
assessment, assessing the safety of the swallow [3,39] . This ensures safe and optimal feeding strategies are in
place and sets the foundation for effective feeding in the future.

Specialist speech and language input is also crucial to assess and treat the communication difficulties
frequently seen in MBS [8,42] [Table 2]. These can vary from affected children developing normal language but
presenting with articulatory difficulties related to their facial palsy to more complex children relying on
nonverbal communication as speech is not achievable.

Respiratory concerns
Respiratory complications, including increased respiratory effort and feeding-related apnoea, have been
reported in a significant number of MBS cases [8,42] . Early specialist input is essential for airway protection in
affected neonates. Management strategies might encompass positioning, the use of airway adjuncts, and
prolonged enteral feeding for those with respiratory complications [Table 2].

Ophthalmological interventions
Ophthalmological manifestations in MBS, such as abnormal ocular motility, necessitate early
[3]
intervention . The unopposed action of the medial rectus can lead to contracture, which can be mitigated
with botulinum toxin injections . These injections also facilitate subsequent strabismus surgery.
[43]
Furthermore, relative weakness in the orbicularis oculi muscle can result in incomplete eye closure,
potentially leading to corneal exposure and visual loss. Thus, early ophthalmological assessments are
essential for corneal protection and timely diagnosis and correction of gaze palsies [8,16] [Table 2].