Abstract
Background
Myotonic Dystrophy type 1 is an autosomal dominant, multisystem disease characterized by muscle weakness and myotonia. Phenotypes include congenital, childhood and classic adult onset. Congenital Myotonic Dystrophy (CDM) is the most severe occurring in neonates, characterized by severe hypotonia, mechanical respiratory failure, oropharyngeal and gastrointestinal (GI) dysmotility. Cognitive impairment and cardiac arrhythmias may develop in childhood. GI dysfunction is a common feature of the disease at all ages however manifestations have not been well characterized in pediatric patients.
Aims
To characterize GI manifestations in patients with CDM during infancy and childhood including growth, feeding intervention and dysmotility.
Methods
A multi-centre cohort of patients ages 0–13 years old with CDM was used. It was made of 2 separate prospective cohorts: A) A national active surveillance program sample, (Canadian Pediatric Surveillance Program) from 03/2005-02/2010, focusing on the burden of illness in patients with CDM from birth to 5 years old and B) an ongoing two-centre study (University of Utah and University of Western Ontario) focusing on clinical factors contributing to morbidity and mortality of patients 0–13 years old.
Results
A total of 88 patients were enrolled from 2 cohorts.
Cohort A: 20/38 were female. Polyhydramnios was the main complication in pregnancy 17 (45%). Term birth occurred in 23 (61%) and 22 (58%) had a normal birth weight. Feeding support was required for more than 14 days in 28 (74%); 27 (71%) via nasogastric tube (NGT), 10 (26%) via parenteral nutrition. GI complications were swallowing disorders in 28 (74%) and gastroesophageal reflux (GER) 6 (16%).
Cohort B: 23/50 were female. Baseline median age was 6 years old (6–9). Thirteen (26%) required feeding intervention; 15 (30%) used a NGT, 9 (18%) a gastric tube;. GI medications were used for: GER 9 (18%), constipation 11 (22%) and dysmotility 3 (6%);. Growth parameters included weight and height measurements. The median BMI percentile was 16.4 kg/m2 (14.8–18.3). BMI was < 17 in 30 (60%) patients.
Conclusions
CDM is a multi-system disease presenting in neonates and manifesting in childhood with significant GI concerns including feeding intolerance and intestinal dysmotility. Few studies have focused specifically on the GI manifestations in the neonatal and early childhood period.
Future studies characterizing GI disease in these patients should specify the location of the gut dysmotility, results of diagnostic testing confirming these abnormalities, and interventions used to treat patients.
Funding Agencies
None