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Arch Dis Child 98:A52 doi:10.1136/archdischild-2013-304107.122
  • Ethics and Law Forum/British Academy of Childhood Disability

G110(P) Facial Nerve Palsy in Moebius Sequence – Can Practise Make Perfect?

  1. D Savitzki2
  1. 1Child Development Centre, Western Galilee Hospital, Naharia, Israel
  2. 2Child Neurology Unit, Western Galilee Hospital, Naharia,Israel
  3. 3Medical School, Bar Ilan University, Zefat, Israel

Abstract

Moebius Sequence or Syndrome (MBS) is an extremely rare (∼0.002% of births) congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include deafness and other cranial nerve dysfunction, motor, orofacial, musculoskeletal, neurodevelopmental, and social-behavioural problems. Various aetiologies are implicated, including familial 13q12.2-q13 deletion, intrauterine teratogen exposure (misoprostol, cocaine, thalidomide), vascular disruption and congenital myopathy, all potentially affecting development of the sixth and seventh nerve nuclei. Lack of facial expression (inability to smile), difficulties in acquiring effective oral control (drooling), and unintelligible speech due to extremely limited range of vowels and phonemes contribute to significant social and communication impairments. Inability to smile may compromise parental emotional bonding.

Aims (1) to document response to intensive speech/language intervention with progress in ability to formulate speech sounds in a young child with MBS;

(2) to summarise current approaches, including surgical, for rehabilitation of facial animation and speech, and limitations thereof.

Methods A case presentation with serial videoclips depicting speech therapy and speech production in a toddler with MBS over 18 months of intervention.

Results Significant progress was made in production of speech sounds in a toddler with MBS using speech-language techniques developed for children with Childhood Speech Apraxia. Intelligibility remains limited, although improved. Current surgical options for muscle or nerve transfer are considered for improving facial animation and speech.

Conclusion MBS is extremely rare, and causes significant social and communication difficulties. A child with normal cognitive abilities and language comprehension born with bilateral congenital abducens and facial nerve palsy was given intensive oral stimulation and speech-language training using techniques developed for Childhood Speech Apraxia. Ability to formulate certain vowels and phonemes was gained. However acquisition of the whole range of tongue and mouth movements and speech sounds is probably restricted. Intensive therapy can improve speech in congenital facial nerve palsy, but incorporation of surgical muscle or nerve transfers and hopefully future technologies will probably be required to normalise facial animation and formulation of speech sounds. Therefore, in the current state of art, practise cannot make perfect.