Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

The purpose of this study is to contribute to a deeper understanding about how placement discontinuities of children in foster care affect their learning. The aim is to find out more about their learning and what role school plays in their life. A life-world perspective is used and theories mainly developed by Alfred Schütz (2002) build the theoretical framework. The empirical research is mainly based on narratives of a pair of twins at 19 years of age, who agreed to share their life stories and experiences of their time in school. Meetings were arranged separately with Alex, the boy, and Helena, the girl, both eager to participate. They felt that their stories could contribute to knowledge. The stories show that placement discontinuities in their early childhood made memories and their perspective of time blurry. They both suffered severe neglect in two of their foster care placements. School offered them a safe place throughout their adolescent years. However, despite this, they are critical to the teachers who saw that they suffered neglect at home but never acted upon that knowledge. Hence their first-hand experiences suggest that teachers, considered important in earlier research studies, are not as important as friend made or the daily routines that provide certain security in an otherwise uncertain life. The social services didn’t listen or support them. Alex and Helena felt that they had to take care of themselves. Their stories show that both of them are goal-oriented and that they highly value a good education. This is evident since they have always taken responsibility to complete set homework and to make school a functional place where they have also learned to know themselves. Furthermore, it is obvious that the twins have played a tremendous role for each other when their life-world time after time has changed. Alex and Helena’s stories and experiences can give the social services a deeper understanding of what lies behind the statistics. A teacher, who listens, shows support and has ambitious expectations regarding the children’s academic performance, has been confirmed in previous research to be of significant importance. In addition, the study shows that teachers should learn more about children in foster care. A life-world perspective and life-world theories can contribute to an alternative point of view regarding learning in life-world discontinuities. Learning can be reflected on by using Schütz theory about “strangers” as a way of understanding learning in a wider range, especially when there are discontinues in the life-world. The reflections made in this study point out the possibility that schools, as organizations, seem to have independent cultures that can be transferred between one another. In fact there seems to be certain variables that are the same for schools in general and hence it is of significant value to recognize school as a regional life-world. The expectations of how you act as a student and among friends are important for the sense of belonging. It is possible that Alex and Helena succeeded in school partly because some of the things they learned about the first school could be transferred to their new school. The study contributes with two new concepts; “livsvärldsbrott”- life-world-disruption and “livsvärldsbevarande”- life-world-preservation

Depressive Symptoms in Children with Chronic Kidney Disease

To assess depression in children with chronic kidney disease (CKD) and to determine associations with patient characteristics, intellectual and educational levels, and health related quality of life (HRQoL)

Liver-kidney transplantation to cure atypical hemolytic uremic syndrome

10 páginas, 8 tablas -- PAGS nros. 940-949Atypical hemolytic uremic syndrome is often associated with mutations in genes encoding complement regulatory proteins and secondary disorders of complement regulation. Progression to kidney failure and recurrence with graft loss after kidney transplantation are frequent. The most common mutation is in the gene encoding complement factor H. Combined liver-kidney transplantation may correct this complement abnormality and prevent recurrence when the defect involves genes encoding circulating proteins that are synthesized in the liver, such as factor H or I. Good outcomes have been reported when surgery is associated with intensified plasma therapy. A consensus conference to establish treatment guidelines for atypical hemolytic uremic syndrome was held in Bergamo in December 2007. The recommendations in this article are the result of combined clinical experience, shared research expertise, and a review of the literature and registry information. This statement defines groups in which isolated kidney transplantation is extremely unlikely to be successful and a combined liver-kidney transplant is recommended and also defines those for whom kidney transplant remains a viable option. Although combined liver-kidney or isolated liver transplantation is the preferred therapeutic option in many cases, the gravity of risk associated with the procedure has not been eliminated completely, and assessment of risk and benefit requires careful and individual attention. Hemolytic uremic syndrome (HUS) is a rare disease of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Typical HUS follows a diarrheal illness caused by a verocytotoxin-producing bacterium, commonly Escherichia coli O157:H7, and resolves in most cases without sequelae.1 Atypical HUS (aHUS) is much less common and has a considerably worse prognosis in terms of both mortality and development of ESRD.2Mutations in genes encoding complement regulatory proteins and secondary disorders of complement regulation seem to play a central role in the pathogenesis of most cases of aHUS. Triggering of an unregulated complement cascade is thought to damage endothelium, producing microangiopathic hemolytic anemia and thrombosis. Gene mutations are identified in at least 50% of cases. The most frequently reported mutations are in the gene encoding complement factor H (CFH) and account for 50 to 60% of cases associated with documented genetic abnormalities. Less frequent are mutations in the genes encoding membrane co-factor protein (MCP) and complement factor I (CFI) and are observed in approximately 20% and 10 to 15% of the overall disease-associated mutations, respectively.3–6 More recently, gain-of-function mutations in the genes encoding the complement-activating protein complement factor B (CFB) as well as complement C3 (C3) have been reported in a few cases with aHUS.7,8 Antibodies against factor H have also been observed in patients with aHUS, particularly children, and in most cases in association with homozygous deletion of the genes encoding complement factor H–related proteins 1 and 3 (CFHR1 and CFHR3).9 Indeed, there is a growing list of the mutations, polymorphisms, and other complement abnormalities that alone or in combination may lead to aHUS.8–13. This work has been partially supported by a grant from Fondazione ART Per La Ricerca Sui Trapianti (Milan, Italy)Peer reviewe

Masked Hypertension Associates with Left Ventricular Hypertrophy in Children with CKD

Left ventricular hypertrophy (LVH) associates with increased risk for cardiovascular disease. Hypertension leads to LVH in adults, but its role in the pathogenesis of LVH in children is not as well established. To examine left ventricular mass and evaluate factors associated with LVH in children with stages 2 through 4 chronic kidney disease (CKD), we analyzed cross-sectional data from children who had baseline echocardiography (n = 366) and underwent ambulatory BP monitoring (n = 226) as a part of the observational Chronic Kidney Disease in Children (CKiD) cohort study. At baseline, 17% of children had LVH (11% eccentric and 6% concentric) and 9% had concentric remodeling of the left ventricle. On the basis of a combination of ambulatory and casual BP assessment (n = 198), 38% of children had masked hypertension (normal casual but elevated ambulatory BP) and 18% had confirmed hypertension (both elevated casual and ambulatory BP). There was no significant association between LVH and kidney function. LVH was more common in children with either confirmed (34%) or masked (20%) hypertension compared with children with normal casual and ambulatory BP (8%). In multivariable analysis, masked (odds ratio 4.1) and confirmed (odds ratio 4.3) hypertension were the strongest independent predictors of LVH. In conclusion, casual BP measurements alone are insufficient to predict the presence of LVH in children with CKD. The high prevalence of masked hypertension and its association with LVH supports early echocardiography and ambulatory BP monitoring to evaluate cardiovascular risk in children with CKD

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Abstract Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS