Muscular dystrophy classification and diagnosis has been transformed over the 13 or so years since the cloning of the dystrophin gene (involved in Duchenne and Becker muscular dystrophy). A child or adult presenting with a muscular dystrophy can now expect a precise diagnosis. Precision of diagnosis brings with it improved information for the patient and their family in terms of genetic counselling and prognostic advice. Unfortunately precision of diagnosis still fails to be matched by the availability of curative treatments, though a greater understanding of the various subtypes of muscular dystrophy does means that more specific management can be planned. The purpose of this annotation will be to address the various subtypes of muscular dystrophy encountered particularly in childhood within the context of diagnostic standards and related molecular information which enhance the investigation and management of individuals with muscular dystrophy.

The autistic spectrum/pervasive developmental disorders (termed autism here) are neurobehavioral conditions which are characterized by severe qualitative impairments in social reciprocity and communication, associated with stereotypical behaviors and interests. Autism is frequently combined with other symptoms of neurological dysfunction, including abnormal electroencephalograms (EEGs) and clinical seizures in at least 50% of affected individuals. A subgroup of children who develop the impairments of autism after initially normal development (termed ‘autistic regression’) is of particular interest. These children have an increased incidence of abnormal EEGs similar to those found in individuals with Landau–Kleffner syndrome (LKS) (acquired epileptiform aphasia). Recognition of overlapping clinical and electrophysiological features in these two conditions has led to speculation that there may be a pathophysiological relationship between them. This commentary will discuss the diagnosis and treatment of autistic regression (AR) and LKS, to provide a clinical perspective on their sometimes confusing relationships.

Recent molecular genetics research has established that most cases of velocardiofacial syndrome (VCF) and of DiGeorge syndrome result from a submicroscopic deletion at chromosome 22q11.2. The medical features of this disorder include hypocalcemia, immunodeficiency, cleft palate, subtle facial dysmorphism, ‘conotruncal’ cardiac malformations (e.g. truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, and certain types of ventricular septal defects), and other congenital malformations. While none of these complications is found in all patients with the 22q11.2 microdeletion, each is sufficiently common to be considered part of the disorder's medical phenotype.

Over 85% of patients with celiac disease have no gastrointestinal symptoms. Therefore, it is logical to replace the definition of celiac disease based solely on small bowel morphology by the more inclusive term of gluten sensitivity or ataxia, a name which includes silent, latent, and manifest celiac disease. As this altered terminology is not universally accepted, the terms celiac disease and gluten sensitivity are used synonymously.