Orofacial motor dysfunction in Moebius syndrome.

Aim: To review orofacial disabilities and their consequences in children with Moebius syndrome (MBS).

Method: We retrospectively analysed the records of 32 patients (21 males, 11 females) with non-progressive bilateral facial and abducens palsies who had been examined before 6 months of age.

Results: All facial muscles were severely involved in 17 patients; in the 15 others, partial movements were found in the lower face.

Pathogenesis of cranial neuropathies in Moebius syndrome: Electrodiagnostic orofacial studies.

Introduction: We designed a retrospective study of 59 patients with congenital sporadic nonprogressive bilateral facial and abducens palsies.

Methods: Examinations included needle electromyography (EMG) of facial and oral muscles, facial nerve motor latency and conduction velocity (FNCV), and blink responses (BR).

Results: Neurogenic EMG changes were found in 1 or more muscles in 55 of 59 patients, with no abnormal spontaneous activity.

Long-term EEG in patients with the ring chromosome 20 epilepsy syndrome.

The recognizable electroencephalography (EEG) pattern of ring chromosome 20 epilepsy syndrome can be missing in patients with r(20) chromosomal anomaly, and may be found in patients with frontal lobe epilepsy of other origin. This study aims to search for more specific EEG signs by using long-term recordings and measuring the duration of paroxysmal anomalies. The series included 12 adult patients with r(20) anomaly, and 12 controls without any chromosomal aberration.

Outcomes of Neonatal Bulbar Weakness.

Background And Objective: Neonatal bulbar weakness (BW) has various etiologies and a broad prognostic range. We aimed to report outcomes in a large series of children with neonatal BW and explore the association of orofacial electrodiagnostic data with outcome.

Methods: We retrospectively reviewed the files of children who presented with facial, lingual, laryngeal, or pharyngeal weakness at birth and who underwent electrodiagnostic studies combining conventional needle electromyography (EMG) of orofacial muscles, blink responses, and EMG during bottle-feeding.

Congenital multiple cranial neuropathies: Relevance of orofacial electromyography in infants.

Introduction: The aim of this study was to assess diagnoses and outcomes of infants with 2 or more cranial neuropathies identified using orofacial electromyography (EMG).

Methods: This retrospective study involved 90 patients. Diagnoses took into account clinical, radiological, and genetic data.

Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence.

Introduction: We evaluated the role of electromyography (EMG) in assessing orofacial neurological dysfunction in 81 infants with Pierre Robin sequence (PRS).

Methods: Needle EMG of muscles of the face, tongue, and soft palate, and blink responses were recorded. A two-channel EMG recorded sucking and swallowing during bottle feeding.

Usher syndrome type 1: early detection of electroretinographic changes.

Background: Usher syndrome type 1 needs to be diagnosed at early age in order to timely manage speech therapy, cochlear implantation, and genetic counseling. Few data are available regarding electroretinographic testing before the age of six years.

Aim: To describe electroretinographic changes in young children with Usher syndrome type 1.

Positive slow waves in the EEG of premature infants between 24 and 36 weeks of conceptional age.

Objective: The aim of this prospective and longitudinal study was to characterize EEG patterns during the first weeks of life in extremely premature infants.

Methods: Twenty-five extremely premature infants were included and weekly EEG recordings were obtained between 24 and 36 weeks of conceptional age (CA).

Results: Central (rolandic) positive slow waves (CPSW) were found to be the most reliable and characteristic pattern.

Motor dysfunction of the upper digestive tract in Pierre Robin sequence as assessed by sucking-swallowing electromyography and esophageal manometry.

Objectives: To evaluate motor dysfunction in infants with Pierre Robin sequence (PRS) who manifest upper airway obstruction and congenital dysphagia.

Study Design: Term infants (n = 28) with nonsyndromic PRS were studied between days 15 and 45. Sucking-swallowing electromyography was used to evaluate suction and coordination between the oral and pharyngeal phases of swallowing.