ABSTRACT
Behavioural sleep problems are very common in children and are concerns for many parents. This review discusses normal sleep physiology and sleep development and focuses on common behavioural sleep problems in childhood, including behavioural insomnia of childhood, parasomnias and sleep-related movement disorders, highlighting their clinical features and management. Behavioural insomnia of childhood is characterised by learned difficulties in falling asleep and/or staying asleep. Management includes establishing bedtime routines and behavioural techniques. Parasomnias include confusional arousals, sleepwalking, sleep terrors and nightmares, and these usually resolve with time. Management includes parental reassurance and behavioural interventions such as scheduled awakening. With regards to sleep enuresis, management includes behavioural modifications, enuresis alarm and desmopressin. Sleep-related movement disorders include sleep-related bruxism and sleep-related rhythmic movements, of which body rocking is the most common. Early identification and management of behavioural sleep problems may prevent their negative impact on children as well as their families.
ABSTRACT
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.
Subject(s)
Cell Cycle Proteins/genetics , Congenital Microtia/diagnosis , Congenital Microtia/genetics , Growth Disorders/diagnosis , Growth Disorders/genetics , Micrognathism/diagnosis , Micrognathism/genetics , Patella/abnormalities , Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Anorectal Malformations/genetics , Anorectal Malformations/physiopathology , Craniosynostoses/genetics , Craniosynostoses/physiopathology , Female , Growth Disorders/congenital , Humans , Mutation , Phenotype , Rare Diseases/genetics , Rare Diseases/physiopathology , Exome SequencingSubject(s)
Mucocutaneous Lymph Node Syndrome/diagnosis , Stevens-Johnson Syndrome/diagnosis , Administration, Oral , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/therapeutic use , Azithromycin/administration & dosage , Azithromycin/therapeutic use , Child, Preschool , Conjunctivitis/etiology , Cough/etiology , Diagnosis, Differential , Fever/etiology , Humans , Male , Mucocutaneous Lymph Node Syndrome/complications , Mucocutaneous Lymph Node Syndrome/drug therapy , Mucocutaneous Lymph Node Syndrome/pathology , Mucositis/etiology , Mycoplasma pneumoniae/isolation & purification , Stevens-Johnson Syndrome/complications , Stevens-Johnson Syndrome/drug therapy , Stevens-Johnson Syndrome/pathologyABSTRACT
Identity (ID) badges and lanyards worn by pediatric health care workers (HCWs) have been shown to be potential vectors of nosocomial bacterial infections. This cross-sectional study determined the contamination of ID badges and lanyards worn by pediatric HCWs with common respiratory and gastrointestinal viruses. The results showed that ID badges and lanyards are not significantly contaminated with common respiratory or gastrointestinal viruses and are unlikely to be a significant vector for nosocomial infection.
