ABSTRACT: We evaluated the role of electromyography (EMG) in assessing orofacial neurological dysfunction in 81 infants with Pierre Robin sequence (PRS).
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.
Neurogenic EMG signs were detected in facial or oral muscles in 17 of 24 associated PRS and 1 of 57 isolated PRS cases (P < 0.0001). Soft palate muscles showed low-amplitude traces in 41.4% of patients who required two surgical steps for cleft palate repair and 18.5% of those who required only one step. Regarding EMG study during bottle feeding, patients with moderate or severe abnormalities of oral/pharyngeal coordination required more prolonged enteral feeding than patients with mild abnormalities or normal coordination (P = 0.002).
Combined EMG methods were useful in the treatment of infants with PRS. EMG detection of cranial nerve involvement strongly suggests an associated form of PRS.
Muscle & Nerve 06/2011; 43(6):866-71. · 2.37 Impact Factor
ABSTRACT: 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.
To describe electroretinographic changes in young children with Usher syndrome type 1.
Retrospective study of fourteen patients. Age at first neurophysiologic testing was between 17 months and 5 years 4 months. Electroretinogram was performed using flash stimulation in mesopic conditions in the conscious child. Analysis was focused on the amplitudes and latencies of a- and b-waves.
Whatever the age, an abnormal fundus was always confirmed with an absent electroretinogram. The youngest patient with absent electroretinogram was 17 month-old. When recorded on and after the 29th month of age, electroretinogram was absent in all cases, including 6 patients with normal fundus. In three patients a low-amplitude electroretinogram was present at first recording within the 26th and 27th months.
Electroretinogram showed retinopathy in young children with Usher syndrome type 1, even in the absence of fundoscopic signs of retinal degeneration.
European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 12/2008; 13(6):505-7. · 2.01 Impact Factor
ABSTRACT: The aim of this prospective and longitudinal study was to characterize EEG patterns during the first weeks of life in extremely premature infants.
Twenty-five extremely premature infants were included and weekly EEG recordings were obtained between 24 and 36 weeks of conceptional age (CA).
Central (rolandic) positive slow waves (CPSW) were found to be the most reliable and characteristic pattern. CPSWs were frequent at 24 weeks CA and progressively diminished and disappeared around 34 weeks CA. CPSWs appeared isolated or in sequences, they occurred during periods of continuous or discontinuous EEG activity, during bursts or during intervals of discontinuous activity, and unilaterally or bilaterally. Temporal positive slow waves and theta rhythms occurred less often and did not decrease as a function of CA. In addition, the amount of discontinuity progressively decreased until 36 weeks CA. The duration of bursts stayed constant, while inter-burst intervals decreased as a function of CA.
Central positive slow waves are characteristic features of the EEG in the extremely premature infant.
The presence of CPSWs and their progressive disappearance until 34 weeks CA may represent a maturational marker in the EEG.
Clinical Neurophysiology 02/2008; 119(1):180-9. · 3.41 Impact Factor
ABSTRACT: To evaluate motor dysfunction in infants with Pierre Robin sequence (PRS) who manifest upper airway obstruction and congenital dysphagia.
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. Esophageal manometry was used to study the lower esophageal sphincter, esophageal body, and upper esophageal sphincter functions. Manometry results were compared with those of 16 infants with gastroesophageal reflux disease (GERD).
Electromyography showed incoordination of sucking and swallowing in 24 of 28 patients. The disorder was mild in 6, moderate in 6, and severe in 12 patients. All patients showed manometry disturbances: incomplete or asynchronous lower sphincter relaxation (15), multipeaked esophageal body waves (17), very high amplitude waves (14), and asynchronous upper sphincter relaxation (19). The frequency of disturbances and mean resting pressures of both lower and upper sphincters were significantly higher than GERD patients.
In Pierre Robin sequence, sucking-swallowing electromyography and esophageal manometry reveal dysfunction in the motor organization of the tongue, the pharynx, and the esophagus.
Journal of Pediatrics 07/2002; 140(6):719-23. · 4.11 Impact Factor