PracticeUpdate Neurology June 2019

EDITOR’S PICKS 11

Evidence-Based Management of Pediatric Myotonic Dystrophy Type 1 Neurology Take-home message • This is a cross-sectional registry study providing genotypic and phenotypic characterization of pediatric myotonic dys- trophy type 1 (DM1). As expected, there was a relationship between the length of CTG expansion and severity, although short repeats with severe manifestations and vice versa are possible. There was a high prevalence of cognitive dysfunction, most commonly slowness (83% of the entire sample). Orthopedic and musculoskeletal manifestations were also common, with facial dysmorphism present in 71% of the sample. Cardiorespiratory impairment was rare, but tended to be life-threatening when present. • This comprehensive characterization of the condition can be a very useful resource in practice and research contexts. Codrin Lungu MD Abstract OBJECTIVE To genotypically and phenotypically characterize a large pedi- atric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management. METHODS Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehen- sive cross-sectional analysis of most relevant qualitative and quantitative variables was performed. RESULTS We studied 314 children (52% females, with 55% congenital, 31% infantile, 14% juvenile form). The age at inclusion was inversely correlated with the CTG repeat length. The paternal transmission rate was higher than expected, especially in the congenital form (13%). A continuum of highly prevalent neurodevelopmental alterations was observed, including cog- nitive slowing (83%), attention deficit (64%), written language (64%), and spoken language (63%) disorders. Five percent exhibited autism spec- trum disorders. Overall, musculoskeletal impairment was mild. Despite low prevalence, cardiorespiratory impairment could be life-threatening, and frequently occurred early in the first decade (25.9%). Gastrointestinal symptoms (27%) and cataracts (7%) were more frequent than expected, while endocrine or metabolic disorders were scarce. CONCLUSIONS The pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (includ- ing transition into adulthood) and health policy planning. A Large Multicenter Study of Pediatric Myotonic Dystrophy Type 1 for Evidence-Based Management. Neurology 2019 Feb 19;92(8)e852-e865, E Lagrue, C Dogan, M De Antonio, et al. www.practiceupdate.com/c/80099 " This comprehensive characterization of the condition can be a very useful resource in practice and research contexts. "

Outbreaks of Acute Flaccid Myelitis? What Neurologists Need to Know

The Lancet Neurology Take-home message

• In this short report, the author discusses the recent outbreaks of acute flaccid myelitis (AFM) in the US. The condition affects the grey matter of the spinal cord, and its acute onset often follows a respiratory illness. • It is worth reminding physicians to remain alert to the possibility of AFM, and to be aware of any guidelines or announcements that are forthcoming. Codrin Lungu MD Abstract After a third apparent spike in cases of acute flaccid myelitis across the USA, the US Centers for Disease Control and Prevention is on alert. Neurologists worldwide should be aware of what might be an emerging disease. Adrian Burton reports. Outbreaks of Acute Flaccid Myelitis? What Neurologists Need to Know. Lancet Neurol 2019 Mar 01;18(3)234-235, A Burton. www.practiceupdate.com/c/80347

VOL. 4 • NO. 2 • 2019