Effects of systematic screening and detection of child abuse in emergency departments.

Objective: Although systematic screening for child abuse of children presenting at emergency departments might increase the detection rate, studies to support this are scarce. This study investigates whether introducing screening, and training of emergency department nurses, increases the detection rate of child abuse.

Methods: In an intervention cohort study, children aged 0 to 18 years visiting the emergency departments of 7 hospitals between February 2008 and December 2009 were enrolled.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20 patients. MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate. So far only seven mutations in the GNS gene have been reported.

[Bruises in infants should always be accounted for].

Haematomas were observed in three male infants under 1 year of age. In the first case, no suspicion regarding child abuse was raised, but, in retrospect, the appearance of haematomas coincided with the times he had been with a childminder. When he was admitted to hospital for a different reason, namely a serious airway infection, the causal relationship could no longer be established.