Phillipa Van Essen

Effectiveness of prenatal diagnosis of congenital heart defects in South Australia: A population analysis 1999–2003

Aims: To report on the efficiency of fetal echocardiography, outcome after prenatal diagnosis of congenital heart disease (CHD) and the effectiveness of South Australias obstetric screening program in detecting CHD.

Genetic susceptibility to viral exposure may increase the risk of cerebral palsy.

Aim: Cytokine polymorphisms may alter the fetal inflammatory response, increasing susceptibility to cerebral palsy (CP). This study investigates associations between selected inflammatory mediator and cytokine gene polymorphisms (Toll‐like receptor‐4 (TLR‐4) Asp299Gly, interleukin‐6 G‐174C and interleukin‐4 C‐589T) and CP from 443 CP infants and 883 control infants. Results were correlated with viral nucleic acids in the same samples.

Late diagnosis of developmental dysplasia of the hip: an analysis of risk factors.

A neonatal clinical screening program for developmental dysplasia of the hip (DDH) operates in South Australia to diagnose DDH as early as possible. However, some cases of DDH are diagnosed late (>3 months of age). The aims of this study were to identify the specific risk factors for late diagnosis by comparing early diagnosed DDH, late diagnosed DDH, and normal controls in the South Australian population. There were 1945 children with DDH born between 1988 and 2003, of which 67 cases were late diagnosis (3.4%). Maternal characteristics, pregnancy, and delivery details were analyzed, and compared with controls (early diagnosed DDH and the general population). There was a trimodal pattern of age at presentation with a gradual increase in the incidence of late diagnosed DDH over the time period in this study. Birthweight (<2500 g), birth in a rural setting, and early hospital discharge following delivery (<4 days) were significant risk factors for late diagnosed DDH. Breech presentation and delivery by caesarean section were protective for late diagnosed DDH. Risk factors for late diagnosed DDH relate to factors that influence the screening program. A rigorous population-based hip surveillance program is important for early diagnosis of DDH.

CP or Not CP? A Review of Diagnoses in a Cerebral Palsy Register

The purpose of this study was to document the inaccuracy rate of diagnosis of cerebral palsy recorded on the South Australian Cerebral Palsy Register. A total of 402 children born in South Australia from 1993 to 2002 and notified to the Register as having cerebral palsy were identified through the Register database, and 21 children (5.2%) were later identified to have a noncerebral palsy diagnosis. Of these, 5 had either a metabolic or a neurodegenerative disorder and 2 had a syndromic disorder (1 Joubert syndrome and 1 Sotos syndrome); the remaining 14 children had one of the following final diagnoses: developmental delay, gross motor delay, perinatal myositis, spinal subdural and subarachnoid arteriovenous malformation, and Erbs palsy. In 16 of 21 children (76%), the diagnosis was changed at 5 years of age or older. Studies based on population registers may need to take into account the possibility of misclassification, estimated to be at least 5.2% in this study. A complete clinical assessment at the time of diagnosis followed by regular reassessment would enable the clinician to exclude children with alternative diagnoses, which has important implications for clinical management and research based on cerebral palsy registers.

Motor function in 5-year-old children with cerebral palsy in the South Australian population.

The aim of this study was to describe the motor function of a population of children at age 5 years enrolled on the South Australian Cerebral Palsy Register. Among children born between 1993 and 1998, there were 333 with confirmed cerebral palsy (prevalence rate 2.2 per 1000 live births), in whom 247 assessments (56.7% males, 43.3% females) were completed. The distribution by Gross Motor Function Classification System (GMFCS) level was: level I, 50.6%; level II, 18.2%; level III, 9.3%; level IV, 9.7%; level V, 12.1%. The most common topographical classification was spastic diplegia (38.5%), followed by spastic hemiplegia (34.8%) and spastic quadriplegia (14.6%). Abnormal movements occurred at rest or with intention in 19.4% of children. A high proportion of the population with relatively mild gross motor impairments have difficulty with everyday bimanual tasks, reinforcing the need to assess upper limb function independently of gross motor function. The use of ankle–foot orthoses was common, particularly across GMFCS levels II to IV. Further refinement is indicated for this population’s motor dataset, to include more recently described classification measures as well as future novel measures to better describe the presence of both spasticity and dystonia.

Proposed new definition of cerebral palsy does not solve any of the problems of existing definitions.

‘Proposed new definition of cerebral palsy does not solve any of the problems of existing definitions’ SIR–The proposed new definition1 set out in the first sentence (32 words), is no shorter than that of Mutch et al.2 (31 words) and does not solve any of the problems of existing definitions. The second sentence does not add to the definition, as the comorbidities it describes may or may not be present. While brevity is a virtue, clarity is far more important, but we do not consider that the terms used in the new definition improve clarity. For example, ‘lesions or anomalies’ are replaced by ‘disturbances’ which suggests an active agent – does that exclude genetic anomalies? Furthermore, the new definition states that the disturbances which occurred in the past were non-progressive. What constitutes a non-progressive disturbance? For example, it might be argued that asphyxia is a progressive condition in that, after the initial hypoxic insult there is a biochemical cascade that creates much of the resulting damage. Surely, what the authors meant is that the lesion or anomaly in the brain, once recognized in early childhood, is no longer progressive. Knowledge of this fact, however protracted the development of the lesion or anomaly might have been in the past, is very important to the child, their family and caregivers, and has long been a criterion for belonging to the cerebral palsy (CP) group. With or without the long annotation, the phrase ‘developing fetal or infant brain’, adds no further clarity to the age range at which CP may be acquired than ‘in the early stages of development’ and we agree with Blair and Love that ‘activity limitation’ is too imprecise a term to define the lower limit of severity required to be included in the group, and may, therefore, be incorrect. In short, none of the aspects of previous definitions that could benefit from clarification appears to have been clarified by this new definition. The Australian Cerebral Palsy Register (ACPR) is a collaboration between CP registers in each of the States and Territories of Australia. We are committed to pooling the information on people with CP from the whole of our vast continent and are acutely aware both of the need for a valid and reproducible definition of CP and the difficulties in creating one. We are disappointed in this proposed new definition which seems to offer only new wording without additional clarity, and request that more thought be given to its further clarification.

Reproductive Technologies and the Risk of Birth Defects

From the Robinson Institute (M.J.D., V.M.M., K.J.W.), Research Centre in the Early Origins of Health and Disease (M.J.D., V.M.M., K.J.W.), Discipline of Public Health (V.M.M., K.J.W.), and Discipline of Paediatrics and Reproductive Health (M.J.D., E.A.H.), University of Adelaide, the South Australian Birth Defects Register, Women’s and Children’s Hospital (P.V.E., H.S., E.A.H., A.C.), the Epidemiology Branch, South Australian Department of Health (K.P., A.C.), and the South Australian Clinical Genetics Service, SA Pathology (E.A.H.) — all in Adelaide, SA, Australia. Address reprint requests to Dr. Davies at the Robinson Institute, Medical School South, Frome Rd., Adelaide, SA 5005, Australia, or at michael.davies@adelaide.edu.au.