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.

[The advent of a newborn specialty: 19th century pediatrics].

Pediatrics began under the most unfavorable conditions that are difficult to imagine nowadays. Children at the start of the 19th century were considered as negligible. The death rate was tremendous, increased by the work of children in factories as soon as 6 years of age in textile industries.

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.

Assessment of dysphagia in infants with facial malformations.

In infants with facial malformation, dysphagia is frequent and can lead to respiratory and nutritional complications whatever the phenotype. The aim of our study was to assess the severity and mechanisms of dysphagia in infants with facial malformations in order to guide therapeutic management. Forty-two newborn infants with dysphagia and recognizable malformation patterns other than isolated Pierre Robin sequence had: (1) needle electromyography (EMG) of muscles of the face, tongue, and soft palate; (2) two-channel EMG during bottle feeding; and (3) esophageal manometry (EM).

Outcome of infants with celiac disease.

Aims: Determine the proportion of infants whose celiac disease (CD) was confirmed in childhood and evaluate their prognosis in adulthood.

Patients And Methods: The diagnosis of CD was established between 1971 and 1982 in 84 infants based on intestinal biopsy data; a gluten-free diet was prescribed and the cohort followed prospectively.

Results: Thirty-six infants were followed less than 5 years.

Diagnosing celiac disease: a comparison of human tissue transglutaminase antibodies with antigliadin and antiendomysium antibodies.

Objective: To evaluate and compare the sensitivity and specificity of the new serologic marker human antitissue transglutaminase antibodies (IgA anti-tTG) with those of antiendomysium (IgA EMA) and antigliadin antibodies (IgA and IgG AGA) for the diagnosis of celiac disease (CD).

Methods: The level of IgA antibodies to tTG in serum was determined by an enzyme-linked immunosorbent assay (ELISA) test using recombinant human tTG as the antigen; IgA EMA, by indirect immunofluorescence; and IgA and IgG AGA, by ELISA. Sixty-eight serum samples from 59 patients with CD were studied-30 patients had untreated CD, 22 were on gluten-free diets, and 16 had been reintroduced to gluten-and compared with serum samples from 116 children examined for failure to thrive, short stature, various digestive diseases, or other non-CD conditions.