Key result
In 19 children with typical congenital Nemaline Myopathy, feeding difficulties and faltering growth presented early, with the majority requiring gastrostomy, non-invasive ventilation, or both.
Why the study?
What are the clinical characteristics and progression of feeding and speech difficulties in children with typical congenital Nemaline Myopathy?
Observational (n=19)
No
What are the clinical characteristics and progression of feeding and speech difficulties in children with typical congenital Nemaline Myopathy?
Children with typical congenital Nemaline Myopathy frequently experience early feeding difficulties and silent aspiration requiring multidisciplinary assessment and interventions like gastrostomy, which positively affects growth.
Highlights need for early multidisciplinary feeding assessment in typical congenital Nemaline Myopathy; leaves open prospective data on speech progression.
The present study is a retrospective case note review of children with a diagnosis of Nemaline Myopathy attending a tertiary neuromuscular centre. Nineteen patients with typical congenital Nemaline Myopathy are described in relation to their feeding and speech difficulties. Clinical data is presented on: genetic aetiology, severity and disease progression, survival, frequency of follow up, ambulation, faltering growth, frequency of respiratory infections, sleep hypoventilation, non-invasive ventilation (NIV), feeding difficulties, videofluoroscopy results, need for tube feeding (both naso-gastric tube and gastrostomy), gastro-oesophageal reflux and fundoplication. The clinical characteristics of the group include maintained ambulation, faltering growth, feeding difficulties, recurrent respiratory infections and respiratory failure. The majority of children required either gastrostomy or NIV or a combination of both. Faltering growth and gastrostomy preceded nocturnal hypoventilation and NIV in most cases. Gastrostomy had a positive effect on growth. Feeding difficulties, particularly those affecting safety of swallowing, present early in infancy and require a detailed multidisciplinary assessment. Videofluoroscopy demonstrated weak delayed swallowing with silent aspiration. Problems with chewing presented later in childhood. Oro-facial weakness showed a distinct and evolving pattern of open bite and malocclusion affecting oral movements for articulation, chewing and swallowing. Communication interventions are needed to manage dysarthria and weak voice.
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Bagnall et al. (2006) conducted an observational in Typical congenital Nemaline Myopathy (n=19). Typical congenital Nemaline Myopathy was evaluated on Clinical characteristics including feeding and speech difficulties, growth, and respiratory issues. In 19 children with typical congenital Nemaline Myopathy, feeding difficulties and faltering growth presented early, with the majority requiring gastrostomy, non-invasive ventilation, or both.
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