John H. Pearn

Classification of spinal muscular atrophies.

Abstract Clinical heterogeneity within the spinal muscular atrophies (SMA) has long been a source of confusion for questions of prognosis and genetic counselling. Comprehensive clinical and genetic analyses of 240 consecutive index cases from two English centres (The English SMA Study) have enabled some nosological questions to be resolved. The different SMA syndromes can be discriminated by (a) age at the first clinical signs of the disease, (b) pattern of muscle involvement, (c) age at death of other patients within an affected kindred, and (d) genetic evidence. Seven differerit SMA syndromes can be defined clinically and genetically; thirteen mutant genes are incriminated. Prevalence and incidence figures are presented. SMA type I (Werdnig-Hoffman disease) and chronic childhood SMA together comprise 74% of all SMA cases. The classification of the spinal muscular atrophies presented also provides the differential diagnosis for newly presenting cases.

Children and war

Abstract:  Children bear disproportionate consequences of armed conflict. The 21st century continues to see patterns of children enmeshed in international violence between opposing combatant forces, as victims of terrorist warfare, and, perhaps most tragically of all, as victims of civil wars. Innocent children so often are the victims of high‐energy wounding from military ordinance. They sustain high‐energy tissue damage and massive burns − injuries that are not commonly seen in civilian populations. Children have also been deliberately targeted victims in genocidal civil wars in Africa in the past decade, and hundreds of thousands have been killed and maimed in the context of close‐quarter, hand‐to‐hand assaults of great ferocity. Paediatricians serve as uniformed military surgeons and as civilian doctors in both international and civil wars, and have a significant strategic role to play as advocates for the rights and welfare of children in the context of the evolving ‘Laws of War’. One chronic legacy of contemporary warfare is blast injury to children from landmines. Such blasts leave children without feet or lower limbs, with genital injuries, blindness and deafness. This pattern of injury has become one of the post‐civil war syndromes encountered by all intensivists and surgeons serving in four of the worlds continents. The continued advocacy for the international ban on the manufacture, commerce and military use of antipersonnel landmines is a part of all paediatricians’ obligation to promote the ethos of the Laws of War. Post‐traumatic stress disorder remains an undertreated legacy of children who have been trapped in the shot and shell of battle as well as those displaced as refugees. An urgent, unfocused and unmet challenge has been the increase in, and plight of, child soldiers themselves. A new class of combatant comprises these children, who also become enmeshed in the triad of anarchic civil war, light‐weight weaponry and drug or alcohol addiction. The International Criminal Court has outlawed as a War Crime, the conscription of children under 15 years of age. Nevertheless, there remain more than 300 000 child soldiers active and enmeshed in psychopathic violence as part of both civil and international warfare. The typical profile of a child soldier is of a boy between the ages of 8 and 18 years, bonded into a group of armed peers, almost always an orphan, drug or alcohol addicted, amoral, merciless, illiterate and dangerous. Paediatricians have much to do to protect such war‐enmeshed children, irrespective of the accident of their place of birth. Only by such vigorous and maintained advocacy can the worlds children be better protected from the scourge of future wars.

Survival in trisomy 18: life tables for use in genetic counselling and clinical paediatrics

Clinical management of neonates with Trisomy 18 depends on a knowledge of life expectancy. True estimates of potential life span are required for genetic counselling purposes when parents interpret the genetic threat, not only in terms of the mathematical odds involved, but also in terms of the quality and length of life of an affected infant, should such be born. This paper reports the findings from a study to generate life tables for Trisomy 18. This study is a total population study over 10 years based on a primary population of 2.2 million. Forty‐eight cases of Trisomy 18 were identified, five at amniocentesis. Four of the 43 clinical cases (9%) were mosaics. The median life expectancy for live‐born infants was five days (range one hour to 18 months). Mean age at death was 48 days. Life tables, by sex and by sub‐types (associated congenital abnormalities) are presented. The annual incidence is 14 per 100,000 total births, with a prevalence estimate of 0.06 per 100,000 total population.

A review of first aid treatments for burn injuries

Throughout history there have been many different and sometimes bizarre treatments prescribed for burns. Unfortunately many of these treatments still persist today, although they often do not have sufficient evidence to support their use. This paper reviews common first aid and pre-hospital treatments for burns (water--cold or warm, ice, oils, powders and natural plant therapies), possible mechanisms whereby they might work and the literature which supports their use. From the published work to date, the current recommendations for the first aid treatment of burn injuries should be to use cold running tap water (between 2 and 15 degrees C) on the burn, not ice or alternative plant therapies.

Accidental poisoning in childhood: five year urban population study with 15 year analysis of fatality.

Patterns of accidental poisoning in children are changing dramatically. A five year population study (1977-81) was undertaken in urban children from Brisbane (population 1 000 000). A total of 2098 children were poisoned during this period with only one fatality, which represents a dramatic reduction in mortality. Over the past 15 years (1968-82) 13 children have died from accidental poisoning from this population, and two were murdered with drugs. A study of secular trends has indicated that peak incidence occurred in 1979, and the rate has been falling progressively since. The current age corrected rate of poisoning is 393 per 100 000 children per year (0-5 year olds). The rank order of poisons, drugs, and chemicals causing hospital admission and death is: petroleum distillates 13%; antihistamines 9%; benzodiazepines 9%; bleach and detergents 7%; and aspirin 6%. The ratio of fatalities to ingestions requiring hospital admission was calculated to give an index of a practical danger of noxious agents to which children are currently exposed and the rank order is: cardiotoxic drugs, one fatality to 25 ingestions; tricyclic antidepressants, one to 44; sympathomimetic drugs, one to 54; caustic soda, one to 68; aspirin, one fatality to 350 ingestions. Accidental poisoning of children leading to death has been reduced because patterns of drug prescriptions have changed, packaging of dangerous drugs has been made safer, and substances such as kerosene have been coloured blue.

Autosomal dominant spinal muscular atrophy: a clinical and genetic study.

A clinical and genetic study of 6 kindreds (13 patients) with autosomal dominant spinal muscular atrophy is presented. Evidence is presented to indicate that two separate autosomal dominant genes are involved. One of these causes clinical disease with onset in early childhood (birth--8 years), which is relatively benign and in which proximal selectively of muscle involvement is not marked. A separate autosomal dominant gene causes a disease with onset in adult life (median age 37 years), showing marked initial proximal selectively; this disease may be more rapid in its clinical progression. Penetrance of both genes approaches 100%. Incidence figures are presented; less than 2% of all cases of childhood onset spinal muscular atrophy, but 30% of adult onset cases, are due to an autosomal dominant gene transmitted from an affected parent. Implications for prognosis, diagnosis and genetic counselling are discussed. A review of 11 kindreds of dominant spinal muscular atrophy in the literature is presented.

Emotional Sequelae of Parents and Sibs Following the Drowning or Near-Drowning of a Child

This study reports the findings from an investigation to evaluate the intra-family dynamics that occurred with 111 cases of childhood drowning and near-drowning in the City of Brisbane in 1971-1975. Personal interviews were obtained with 77 of the families. 24 per cent of parent-dyads separated following the drowning of their child, whereas none of the 54 families of surviving children separated. Accident generated stresses within the studied families tended to persist for years after the incident. Parents volunteered the information that they drank more, experienced sleep disorders and nightmares, and reported significant anxiety states. 19 per cent of parents of drowned children received specialist psychiatric treatment following the drowning. Two cases of surviving children received specialist psychiatric therapy (these were both parents who had inflicted non-accidental injury on their child, and had attempted to drown their child in the bath). In one sense, a childs death is more honourable from societys point of view if the child dies from a chronic medical illness such as leukaemia. In the case of a childs death in the family bath tub or the backyard swimming pool, the extra society sanctions of culpability and accusation further intensified the likelihood of the normal grief process being transformed into a pathological variant.

Neonaticide, infanticide and child homicide

A total population study of neonaticide, infanticide and child homicide is reported. There are seven defineable syndromes of unlawful child killing which include: neonaticide, infanticide, non-accidental injury, the deprivation-starvation syndrome, euthanasia, killing of family members followed by the suicide of the killer, and child murder. 49 such cases are reported from a base population of 2 million people, over a 10-year period of investigation. The syndromes of neonaticide and non-accidental injury each contribute some 20 per cent of cases in the full spectrum of unlawful child killing. 18 cases of fatal non-accidental injury were reported over this time. With modern crisis intervention facilities, standard hospital rules for the management of acute cases of non-accidental injury, and co-ordinated child abuse centres, approximately 2 per cent only of non-accidental injury cases should come to a fatal conclusion.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889‐D11S1321, Zmax = 4.59 at θ = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy.

Neurological and psychometric studies in children surviving freshwater immersion accidents

A study of the neurological and intellectual sequelae of childhood near-drowning is reported. Results are from a total population study, without selection, of all freshwater immersion accidents in which consciousness was lost in the water. Such accidents affected 56 children in the city of Brisbane and environs over the period 1971-75. 54 of these children have been re-examined medically and psychometrically. Over 95 per cent of children who survived such accidents were neurologically normal. The median i.q. of survivors was 110 (range 90-137), which is higher than that of the general population. There is a suggestion that visualmotor (performance)) skills are particularly vulnerable to freshwater immersion hypoxia. In 20 per cent of survivors subscale disparities between verbal and performance skills exceeded 15 i.q. points. No correlation between the post-immersion I.Q. and either estimated immersion-time or water temperature was demonstrated in this study. No long-term emotional or personality disorders were encountered. Uncommon gross clinical sequelae of prolonged immersion in fresh water included spastic quadriplegia and gross mental retardation. All children in this study were apparently dead at the moment of rescue; despite this, the prognosis of near-drowning in childhood is excellent