Autism spectrum disorders in propionic acidemia patients.

Propionic acidemia is the result of a deficiency in propionyl-CoA carboxylase activity. Chronic neurologic and cognitive complications frequently occur, but the psychiatric evolution of the disorder is not well documented. We conducted a pedopsychiatric evaluation of 19 children, adolescents and young adults, aged between 2 and 25 years, using ADI-R, CARS-T, as well as ADOS when autism spectrum disorder was suspected. Previous psychometric examinations were also taken into consideration. Thirteen patients had an IQ < 80. Two patients presented with autism and two additional patients with other autism spectrum disorders. Five patients did not fulfill diagnostic criteria for autism spectrum disorder but showed difficulties indicative of a broader autism phenotype (BAP). Four other patients had severe anxiety manifestations related to their disease. Two patients presented with acute psychotic episodes. The number of decompensations in the first 3 years of life was lower in patients with autism spectrum disorder or related symptoms. These patients were also older when they were assessed (median age of 15 years old versus 11 years old). There was no significant correlation between 3-hydroxypropionate levels during the first 6 years of life and autism spectrum disorder diagnosis. In conclusion, autism spectrum disorder is frequent in patients with propionic acidemia. These patients should undergo in-depth psychiatric evaluation and be screened for autism spectrum disorder. Further studies are needed to understand the underlying mechanisms.

[Somatoform disorders in adolescence]. / Troubles somatoformes de l'adolescent.

Somatoform disorders are fairly common in adolescents. These disorders are frequently met by all professionals like pediatricians, neurologists and general physicians. Studies on adolescence encountered bias to evaluate frequency of these disorders because of variations in the diagnostic criteria used by different workers and diversity of units concerned. Actually, there is no consensus about taking care these patients. Paediatricians remain the first step and link for the care which is often complicated and needs multidisciplinary approach. The recognition of somatoform disorders requires two complementary diagnostic processes in order to propose a fitted treatment for adolescents for whom symptoms always are the reflection of a suffering that has to be identified, evaluated and cared.

Transcultural mediation programme in a paediatric hospital in France: qualitative and quantitative study of participants' experience and impact on hospital costs.

OBJECTIVE: In France, immigrants with chronic diseases encounter numerous difficulties in gaining access to care and then in its initiation and organisation, difficulties only partly explained by socioeconomic factors. A transcultural mediation consultation programme has been set up in Necker Hospital in Paris to help families and professionals deal with these situations. The objective of this study was to assess the economic impact and the experience of this consultation. DESIGN: Qualitative and quantitative descriptive study. SETTING: This study of inpatients treated at Necker Hospital included those whose families participated in transcultural mediation in 2014 through 2016. PARTICIPANTS: The first portion of the study applied quantitative methods and compared hospital costs before and after the mediation from the patients' records and accounting data for 15 cases. The qualitative portion analysed 15 semistructured interviews of physicians and families after the mediation, and a focus group of three psychologists. RESULTS: The results show a systematic reduction in costs after mediation, associated with fewer emergency hospitalisations and the shift of care toward less specialised facilities, calmer relationships between families and professionals, improved mutual understanding and increased confidence by the professionals in the families' ability to manage the treatment. CONCLUSION: Transcultural mediation can benefit both patients and the healthcare system and may be useful for other hospitals that care for socially and culturally diverse patients.

Parental involvement in treatment decisions regarding their critically ill child: a comparative study of France and Quebec.

OBJECTIVE: To examine whether physicians or parents assume responsibility for treatment decisions for critically ill children and how this relates to subsequent parental experience. A significant controversy has emerged regarding the role of parents, relative to physicians, in relation to treatment decisions for critically ill children. Anglo-American settings have adopted decision-making models where parents are regarded as responsible for such life-support decisions, while in France physicians are commonly considered the decision makers. DESIGN: Grounded theory qualitative methodology. SETTING: Four pediatric intensive care units (two in France and two in Quebec, Canada). PATIENTS: Thirty-one parents of critically ill children; nine physicians and 13 nurses who cared for their children. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Semistructured interviews were conducted. In France, physicians were predominantly the decision makers for treatment decisions. In Quebec, decisional authority practices were more varied; parents were the most common decision maker, but sometimes it was physicians, while for some decisional responsibility depended on the type of decision to be made. French parents appeared more satisfied with their communication and relationship experiences than Quebec parents. French parents referred primarily to the importance of the quality of communication rather than decisional authority. There was no relationship between parents' actual responsibility for decisions and their subsequent guilt experience. CONCLUSIONS: It was remarkable that a certain degree of medical paternalism was unavoidable, regardless of the legal and ethical norms that were in place. This may not necessarily harm parents' moral experiences. Further research is required to examine parental decisional experience in other pediatric settings.

The moral experience of parents regarding life-support decisions for their critically-ill children: a preliminary study in France.

The common paediatric critical care practice in France is for physicians (rather than parents) to maintain the ultimate responsibility for lifesupport decisions in children. Some French literature asserts that it is inappropriate for parents to bear such responsibilities because they do not have the required knowledge and should be protected from feeling culpable for such decisions. The aim of this grounded theory preliminary study was to examine the moral experience of parents of critically-ill children that required life-support decisions in France. A convenience purposive sample of seven parents was recruited in Paris. Five principal themes emerged as significant from these interviews: (1) a need for more information; (2) physicians should be responsible for life-support decisions; (3) the child's concerns and wishes need to be better heard; (4) maternal guilt; and (5) physicians require better training in parent communication. These findings raise important issues for clinical practice and further research in France.

Communication in pediatric critical care: A proposal for an evidence-informed framework.

The aim of this investigation was to conduct a comprehensive examination of communication between parents and health care professionals (HCPs) in the pediatric intensive care unit (PICU). A secondary analysis was performed on data from 3 previous qualitative studies, which included 30 physicians, 37 nurses, and 38 parents in France and Quebec (Canada). All three studies examined a mix of cases where children either survived or died. All data referring to communication between parents (and patients when applicable) and HCPs were examined to identity themes that related to communication. Thematic categories for parents and HCPs were developed. Three interrelated dimensions of communication were identified: (1) informational communication, (2) relational communication, and (3) communication and parental coping. Specific themes were identified for each of these 3 dimensions in relation to parental concerns as well as HCP concerns. This investigation builds on prior research by advancing a comprehensive analysis of PICU communication that includes (a) cases where life-sustaining treatments were withdrawn or withheld as well as cases where they were maintained, (b) data from HCPs as well as parents, and (c) investigations conducted in 4 different sites. An evidence-informed conceptual framework is proposed for PICU communication between parents and HCPs. We also outline priorities for the development of practice, education, and research.

Struggling to do what is right for the child: pediatric life-support decisions among physicians and nurses in France and Quebec.

This study examined (a) how physicians and nurses in France and Quebec make decisions about life-sustaining therapies (LSTs) for critically ill children and (b) corresponding ethical challenges. A focus groups design was used. A total of 21 physicians and 24 nurses participated (plus 9 physicians and 13 nurses from a prior secondary analysis). Principal differences related to roles: French participants regarded physicians as responsible for LST decisions, whereas Quebec participants recognized parents as formal decision-makers. Physicians stated they welcomed nurses' input but found they often did not participate, while nurses said they wanted to contribute but felt excluded. The LST limitations were based on conditions resulting in long-term consequences, irreversibility, continued deterioration, inability to engage in relationships and loss of autonomy. Ethical challenges related to: the fear of making errors in the face of uncertainty; struggling with patient/family consequences of one's actions; questioning the parental role and dealing with relational difficulties between physicians and nurses.

Pain in children and adults with cystic fibrosis: a comparative study.

Pain is a potential complication of cystic fibrosis (CF), but its consequences in daily life and other issues of pain management are not yet clearly understood. We undertook a comparative study of children and adults with CF to assess the prevalence of pain symptoms, their characteristics and treatment, their impact on daily quality of life, and the occurrence of procedural pain. The study included 73 children (1-18 years) and 110 adults (18-52 years); 59% of the children and 89% of the adults reported at least one episode of pain during the previous month. Pain was significantly more intense and lasted significantly longer among adults, but its rate and recurrence did not differ significantly between the two populations and were not related to the severity of CF. The most prevalent locations were the abdomen for children, and the back, head, and chest for adults. Although pain significantly limited physical activity, only 15% of patients reported that it caused absenteeism, and 27% reported that it negatively affected their family life. The mean pain intensity rates on a visual analog scale for the episode that had caused the greatest pain during the past month were 4.9 (2) (mean [SD]) for children and 6 (2) for adults; however, only 40% and 50%, respectively, of those with pain reported the use of analgesic treatment, mainly paracetamol (acetaminophen). At least one episode of procedural pain during the previous month was reported by 85% of children and 78% of adults. Our study demonstrates the high incidence of undertreated pain in CF patients throughout their lives.