Congenital and childhood myotonic dystrophy:Current aspects of disease and future directions

Myotonic dystrophy type 1(DM1) is multisystem disease arising from mutant CTG expansion in the nontranslating region of the dystrophia myotonica protein kinase gene. While DM1 is the most common adult muscular dystrophy, with a worldwide prevalence of one in eight thousand, age of onset varies from before birth to adulthood. There is a broad spectrum of clinical severity, ranging from mild to severe, which correlates with number of DNA repeats. Importantly, the early clinical manifestations and management in congenital and childhood DM1 differ from classic adult DM1. In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognised yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counselling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation, as is assisting with family planning and undertaking cascade testing to instigate health surveillance in affected family members. This review incorporates discussion of the clinical manifestations and management of congenital and childhood DM1, with a particular focus on hypersomnolence and sleep disorders. In addition, the molecular genetics, mechanisms of disease pathogenesis and development of novel treatment strategies in DM1 will be summarised.

Crohn’s and colitis in children and adolescents

Crohn's disease and ulcerative colitis can be grouped as the inflammatory bowel diseases(IBD).These conditions have become increasingly common in recent years,including in children and young people.Although much is known about aspects of the pathogenesis of these diseases,the precise aetiology is not yet understood,and there remains no cure.Recent data has illustrated the importance of a number of genes-several of these are important in the onset of IBD in early life,including in infancy.Pain,diarrhoea and weight loss are typical symptoms of paediatric Crohn's disease whereas bloody diarrhoea is more typical of colitis in children.However,atypical symptoms may occur in both conditions:these include isolated impairment of linear growth or presentation with extra-intestinal manifestations such as erythema nodosum.Growth and nutrition are commonly compromised at diagnosis in both Crohn's disease and colitis.Consideration of possible IBD and completion of appropriate investi-gations are essential to ensure prompt diagnosis,thereby avoiding the consequences of diagnostic delay.Patterns of disease including location and progression of IBD in childhood differ substantially from adultonset disease.Various treatment options are available for children and adolescents with IBD.Exclusive enteral nutrition plays a central role in the induction of remission of active Crohn's disease.Medical and surgical therapies need to considered within the context of a growing and developing child.The overall management of these chronic conditions in children should include multi-disciplinary expertise,with focus upon maintaining control of gut inflammation,optimising nutrition,growth and quality of life,whilst preventing disease or treatment-related complications.

Mental fitness during transition to fatherhood

Transition into fatherhood is often marked by a period of adjustment,uncertainty and psychological distress and challenges for many men,along with social isolation and relationship problems.Risk factors for paternal mental health issues are maternal depression,marital distress,parenting stress,gender role stress,mismatched expectations for pregnancy and after childbirth,poor physical health,inadequate self-care behaviours,avoiding seeking help for mental health issues,and having a child with sleeping,feeding and temperament problems.Paternal depression,anxiety and post-traumatic stress disorder can have negative impacts on the social and emotional wellbeing of fathers,their partners and their children.Nevertheless,these issues are not widely acknowledged,recognised or treated.Men’s mental health illness is a silent crisis.They often fail to seek help due to their feeling of shame,stigma for a lack of emotional control,distress or anxiety related to utilising mental health support services,and underrating the severity of their symptoms.These necessitate the need for timely attention,psychological support and proper education to minimise their risk of mental health issues.Although research has indicated fathers’inclination toward being included in practices such as the mental health assessment,perinatal education and postnatal educational approaches need to be inclusive of fathers and encourage them to seek support for their paternal mental health issues and parenting difficulties.