Current Pediatric Reviews - Volume 5, Issue 3, 2009

The large number of adverse health outcomes associated with advanced paternal age is not widely recognized by the pediatric community. An exploration of the clinical and public health implications of this issue is required so as to develop appropriate policies. Included in this review are the clinically relevant conditions and diseases currently known to be associated with increasing paternal age, including diminutions in child IQ and social function [1], increased rates of low birth weight, certain childhood cancers, autistic spectrum disorders, schizophrenia, achondroplasia, Apert syndrome, Crouzon syndrome, and Multiple Endocrine Neoplasia (MEN). Other conditions for which there may be increased rates, but for which the data are still inconclusive, also are discussed. As men delay childbearing in the developed world, there is a need for pediatricians to be aware of the potential consequences. This paper provides pediatricians with a reference for conditions in children that are related to advanced paternal age, assisting them in maintaining a high index of suspicion, and for use in responding to questions from parents about this issue.

Lysosomal storage disorders (LSD) arise from genetic deficiency of a lysosomal enzyme (or its transport) and from subsequent accumulation of the enzyme substrates. Haemopoietic Stem Cell Transplant (HSCT) therapy for LSD corrects disease through cross correction of enzyme deficiency in recipient cells by enzyme secreted from engrafted, donor blood cells. The process of such transplant, its efficacy and its inherent risks are central in defining its current place in therapy. Two decades of HSCT have seen dramatically improving results as well as an improved understanding of the factors that affect outcome in both the short and long term. With improving survival figures transplant might become a viable treatment for patients that were traditionally excluded from transplant because of perceived risk. Some LSD respond better to HSCT than others and even within a responding disease some organs respond better than others. We develop the concept of delivered enzyme following cellular and other therapies of LSDs, including pharmacological enzyme replacement therapy (ERT). Delivered enzyme must be sufficient to achieve a correctable threshold that is both tissue and disease specific. Therapies of LSDs in the future will be more effective as they improve enzyme delivery to tissues and do so more safely and with reduced long term toxicities.

Rett syndrome (RTT) is a severe developmental-neurological disorder characterized by profound and progressive loss of intellectual functioning. Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are present in the majority of cases of RTT. The high incidence of sudden death in RTT and the suspect that autonomic nervous system alterations might be the underlaying pathogenetic mechanism have spurred efforts, in the last decade, for the study of the autonomic nervous system in Rett girls. Recently, many studies were performed in mice with Mecp2 mutations to know the pathophysiology of autonomic nervous system alterations observed in RTT. Neurometabolic alterations observed in RTT include reduced levels of dopamine, serotonin, noradrenaline, choline acetyltransferase, nerve growth factor (NGF), substance P, glutamate and other aminoacids and their receptor levels in the brain. Breathing irregularities with various respiratory patterns were described in RTT suggesting autonomic nervous system alterations. In RTT a loss of physiological heart rate variability associated with an increase of adrenergic tone is also observed. Pharmacological manipulation of brainstem neurotransmitters and neurotrophic drugs, as acetyl-L-carnitine, have been suggested in the treatment of autonomic alterations of Rett children. Recently, the principle of reversibility in a mouse model was established, raising the possibility that neurological defects seen in this model and related human disorders are not irrevocable.

Von Willebrand disease (VWD) is an inherited bleeding disorder that is caused by deficiency or dysfunction of Von Willebrand factor, a plasma protein that mediates the initial adhesion of platelets at sites of vascular injury and also binds and stabilizes blood clotting factor VIII in the circulation. VWD prevalence has been estimated in several countries on the basis of the number of symptomatic patients seen at haemostasis centers, and the values range from roughly 23 to 110 per million population. VWD is characterized by three key features: a personal history of excessive mucocutaneous bleeding, abnormal VWF laboratory studies, and evidence of a family history of the condition. Although bruising and epistaxis are common among children who have VWD, these symptoms also are reported in normal children. The accurate assessment of hemorrhagic symptoms is a key component in diagnosing VWD but this can present a significant challenge, particularly in the pediatric population. The challenges involved in making the diagnosis of Von Willebrand disease - focusing on personal bleeding history and the utility of bleeding questionnaires, along with family bleeding history and laboratory diagnosis in the pediatric population - will be reviewed.

For patients with childhood-onset growth hormone deficiency, the transition from adolescence to adulthood is a critical phase. A number of studies support the concept that during this transition phase, the adolescent with confirmed severe persistent GHD should continue growth hormone treatment. Major issues that need to be addressed during this phase include the need for confirmation of the diagnosis of GHD and approporiate dosage of the recombinant human growth hormone (rhGH). Confirmation of GHD through provocative testing of growth hormone secretion is usually required unless there is a proven genetic or structural lesion which persists from childhood and causes the deficiency. Insulin induced hypoglycemia and growth hormone releasing hormone (GHRH) plus arginine are the growth hormone stimulation tests of choice with use of appropriate cut-off limits of growth hormone levels. Individual titration of the rhGH dose is recommended and measurement of insulin like growth factor one (IGF-1) levels need to be followed for monitoring the adequacy of replacement. The mean growth hormone replacement dose for the adolescent in transition, however, is still higher than in adulthood. Growth hormone offers beneficial effects on body composition, bone mineral density, cardiac function, lipid profile, quality of life, and is most likely to benefit those patients who have more severe GHD.

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Zinc (Zn) is a multipurpose trace element, sufficiency of which is difficult to assess. However, Zn deficiency could negatively influence this disease in different aspects. The symptoms of Zn deficiency as taste disturbances, decreased appetite and impaired growth but also disturbed fatty acid profiles and disturbances in immunity, inflammation and oxidative stress defence are discussed and applied to what is known in cystic fibrosis (CF) (Table 1).

The aim of the present study was to evaluate the prevention of dental trauma in children aged 0 to 3 years, as it is studied in the literature. Since these traumatic injuries can cause damage and complications to the deciduous teeth, and even to the permanent teeth, the development of actions to reduce their occurrence is necessary because these injuries represent a considerable problem in dentistry. Although prevention is difficult in this age group, efforts should be directed at education, especially the development of educational programs involving qualified professional directly engaged in the routine of traumatic dental injuries. The actions to be adopted should be based on the understanding of etiological factors, on the different patterns of the mechanism of injury, and on the characteristics of each community.