Can clinical signs identify newborns with neuromuscular disorders?
OBJECTIVE
To evaluate retrospectively the prevalence of neuromuscular disorders in 83 newborns referred to a tertiary care center because of hypotonia and weakness and/or contractures, with a possible diagnosis of neuromuscular disorder. We also aimed to establish whether clinical signs could help to identify infants with neuromuscular disorders.


METHODS
Sixty-six of the 83 infants who fulfilled the inclusion criteria (79.5%) had an identifiable disorder, which was a neuromuscular disorder in 39 (46.9%).


RESULTS
Absent or extremely reduced antigravity movements were mainly found in infants with neuromuscular disorders (sensitivity and specificity 97.4% and 75%), whereas partial range antigravity movements were more frequent in infants with other diagnosis. Contractures were mainly found in infants with peripheral nerve or muscle involvement but also were relatively frequent in infants with genetic or metabolic syndromes (sensitivity 69.2%, specificity 61.3%). Reduced fetal movements and abnormal liquor were frequent but not present consistently in infants with neuromuscular disorders (sensitivity 46.1% and 38.4%) and were found rarely in infants with other disorders (specificity 88.6% and 75.0%).


CONCLUSIONS
Severe muscle weakness and contractures are the most reliable indicators of a neuromuscular disorder and should be carefully assessed in an infant with neonatal hypotonia.
Vasta
Isabella
I
Department of Paediatrics, Imperial College, Hammersmith Hospital, London, UK.
Kinali
Maria
M
Messina
Sonia
S
Guzzetta
Andrea
A
Kapellou
Olga
O
Manzur
Adnan
A
Cowan
Frances
F
Muntoni
Francesco
F
Mercuri
Eugenio
E
D000465:Algorithms; D003286:Contracture / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology*; D018908:Muscle Weakness / Q000209:etiology*; D009468:Neuromuscular Diseases / Q000150:complications* / Q000151:congenital / Q000175:diagnosis*; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012680:Sensitivity and Specificity