Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5
Deglutition; disorders; girls; phenotype; dysfunction; mecp2 mutations; Classical Rett syndrome; Dysphagia; Early Pseudostationary stage; Fluoroscopy; genotype; Otorhinolaryngology; Swallowing; Videofluoroscopic study of swallowing; women; feeding difficulties; tone and motor; Rett syndrome; trajectory; characteristics; dysmotility; dystonia; dyskinesia
We do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and distinguishing features of dysphagia in post-regression early Pseudostationary Stage III. In-depth analysis of videofluoroscopic swallowing studies (VFSS) found dysmotility of oral stage events across subjects implicating oral apraxia. Impaired motility was further compromised by recurrent dystonic and dyskinetic movements that co-occurred with oral apraxia during oral ingestion in 78 % (n = 18) of the subjects with RTT. Of this group, 44 % displayed rocking and/or rolling lingual pattern, 56 % had recurrent oral tongue retroflexions, and/or elevated posturing of the tongue tip, and, 72 % displayed multi-wave oropharyngeal transfer pattern. The proportion of subjects whose swallowing motility was disrupted by aberrant involuntary tongue movements did not differ significantly between bolus types (liquid, puree, and solid) trialed. Liquid ingestion was significantly more efficient in subjects using bottles with nipples than their counterparts who used spouted or straw cups. Dystonic and dyskinetic tongue movements disrupted liquid ingestion in subjects using cups with spouts or straws significantly more than those using bottles. Analysis of food ingestion revealed that significantly more subjects were able to orally form, transport, and transfer a puree bolus into the pharynx than they were a solid bolus. A significantly larger number of subjects aspirated and penetrated liquid than they did puree or solid. No significant relationship was found between subjects with airway contamination and those with dystonic and dyskinetic tongue movements. Subjects' rocking and rolling lingual patterns were consistent with those evidenced in adults with Parkinson's disease. Subjects' tongue retroflexions were classified as provisionally unique to RTT. VFSS pre-planning, fluoroscopic procedures, and therapeutic strategies specific to this specialty population were derived.
Abraham S S; Taragin B; Djukic A
Dysphagia
2015
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s00455-014-9587-9" target="_blank" rel="noreferrer noopener">10.1007/s00455-014-9587-9</a>
Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
Child; Female; Humans; Adult; adolescent; Preschool; Nutritional Status; Gastric Emptying; Energy Intake; Deglutition; Esophageal Motility Disorders/physiopathology; Oropharynx/physiopathology; Rett Syndrome/physiopathology
BACKGROUND: Feeding impairment frequently complicates the course of children with neurologic disorders and places them at risk for malnutrition and growth failure. Although feeding abnormalities have been reported in female patients with Rett syndrome, the mechanisms that account for these findings have not been elucidated fully. This study was designed to characterize the clinical features of oropharyngeal and gastroesophageal dysfunction and their impact on the dietary intake and nutritional status of female subjects with Rett syndrome. METHODS: The clinical features of oropharyngeal and gastroesophageal dysfunction in 13 female patients with Rett syndrome, (age range, 3.7 to 25.7 years) were characterized by an oral feeding assessment, swallowing function study, and upper gastrointestinal series. Growth, nutritional status, and body composition were determined by stadiometry and anthropometry. Dietary intakes were determined from 3-day food records. RESULTS: Oropharyngeal dysfunction and gastroesophageal dysmotility were present in 100% and 69%, respectively, of the study patients with Rett syndrome. The scope and severity of these abnormalities were apparent only by videofluoroscopy. Abnormalities of oropharyngeal function included poor tongue mobility, reduced oropharyngeal clearance, and laryngeal penetration of liquids and solid food during swallowing. Esophageal dysmotility included absent primary or secondary waves, delayed emptying, atony, the presence of tertiary waves, spasm, and gastroesophageal reflux. Gastric dysmotility included diminished peristalsis or atony. Lower dietary energy intakes were associated with persistence of residue in the valleculae and pyriform sinuses and less body fat. CONCLUSION: The prevalence of oropharyngeal dysfunction and gastroesophageal dysmotility warrants early diagnostic evaluation and intervention strategies to improve the nutritional status of girls and women with RS.
1999
Motil KJ; Schultz RJ; Browning K; Trautwein L; Glaze DG
Journal Of Pediatric Gastroenterology And Nutrition
1999
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1097/00005176-199907000-00010" target="_blank" rel="noreferrer">10.1097/00005176-199907000-00010</a>