Quelques jalons introductifs à la loi du 11 février 2005

The law of February 11th, 2005 for “The equality of rights and chances, the participation and the citizenship of disabled persons” has substantially modified society's perception of the disabled. A fundamentally “social” law, it does not establish its logic on the medical and clinical aspects of the handicap, but on its functional and social consequences for the person. The principles of nondiscrimination, accessibility, consideration of the environment, and the compensation of the consequences of the handicap are the key words. Some of its measures question the privileged, even exclusive, place that has been granted up till now to the medical and social establishments welcoming handicapped children, for the implementation of their schooling, their education and care. The services of the Ministry of Education and the personalized project of schooling, as well as the life in the family place of residence thus tend to become the pivots around which establishments and medical and social services and the project of care have to articulate.     

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??The prevalence of depression and anxiety in children and adolescents with epilepsy was 12%??36%??but the symptoms of depression and anxiety were rarely recognized and treated. Seizure variables??use of polytherapy??demographic characteristics and child and family adaptation are associated with increases in the symptoms. The use of screening measures increases the recognition of symptoms of depression and anxiety. Treatment of epilepsy-specific symptoms of depression and anxiety involves multidisciplinary collaboration. Pharmacological and psychotherapeutic interventions are recommended??with SSRIs as the first-line medications.     

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目的调查肥胖及矮小儿童自我意识水平,探讨其与正常儿童自我意识方面的差异。方法 2008年8月至2008年12月用Piers-Harris儿童自我意识量表对湖南省长沙市7所中学中86例肥胖及69例矮小儿童进行心理健康调查。结果肥胖儿童在行为、躯体外貌、合群、焦虑及自我意识总分得分均低于全国常模水平,差异有统计学意义(P<0.05或0.01);肥胖儿童在智力与学校及幸福与满足两个分量表得分与全国常模水平的差异无统计学意义(P均>0.05)。矮小儿童在行为、躯体外貌、幸福与满足、合群及自我意识总分得分均低于全国常模水平,差异有统计学意义(P<0.05或0.01);矮小儿童在智力与学校表现及焦虑两个分量表得分与全国常模水平差异无统计学意义(P均>0.05)。结论肥胖及矮小儿童自我意识水平较正常同龄儿童低,且其自我意识水平高低程度不一。青少年的自我意识水平与躯体疾病密切相关,有必要在医学治疗的基础上加入相应的心理干预措施以促进其身心健康。     

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??There is paucity of data evaluating and managing ICP in sever encephalitis in children. In this article, we refer to the data extrapolated from results of studies done on brain trauma, meningitis, and so on?? combine with basic theory and influence factors of ICP?? CPP and CBF?? to introduce the methods of evaluating ICP and CPP?? prophylaxis and management of raised ICP??and maintaining of CPP in severe encephalitis patients.     

Writing a good anticipatory care plan for a child with severe disability

There are increasing numbers of children with severe disability and life limiting conditions living longer in the community. In order for them to have high quality end of life care and choice of place of death there need to be discussions with the child and family about how the child may deteriorate and the pros and cons of the different possible interventions taking into account the priorities and views of the family and the child themselves. Families and professionals are reluctant to talk about the death of a child and there is always uncertainty. Parallel planning for best and worst case scenarios can be helpful and offering families a useful medical emergency care plan for their child is a positive way to start to plan for deterioration and life threatening events. The emergency care plan can include the resuscitation plan and the child and family priorities of care and leads on to further discussions about choices in end of life care including place of death and funeral plans.     

Nucleotide and polyamine levels in colostrum and mature milk in relation to maternal atopy and atopic development in the children

The prophylactic benefit of breastfeeding against atopic disease is still controversial. It seems to be limited to infants with genetic propensities to allergy in combination with late solid food introduction. Lower levels of n-3 polyunsaturated fatty acids in human milk have been related to atopy in children, stressing a non-specific role of nutritional components in the development of atopy. Nucleotides and polyamines have been related to intestinal integrity and immune function in infancy. The main sources of these nutrients are human milk nucleotides and polyamines early in life. Our aim was to study the composition of nucleotides and polyamines in colostrum and mature milk from atopic and non-atopic mothers and the relationship to sensitization against egg, milk or cat in their children during the first year of life. The nucleotide/nucleoside and polyamine levels were measured by HPLC in colostrum and in milk at 3 mo of lactation from mothers of 21 atopic and 14 non-atopic children. Among the mothers, 10 were atopic and 25 non-atopic. The nucleotides cytidine monophosphate (CMP), uridine monophosphate (UMP), adenosine monophosphate (AMP) and guanosine monophosphate (GMP) and the nucleosides cytidine and uridine were detected in human milk. In colostrum, CMP dominated, and the levels increased in mature milk, while the levels of the other compounds remained constant. The nucleotide/nucleoside composition was similar in colostrum from all mothers independent of the development of sensitization in their babies, except for the higher cytidine levels in mature milk from atopic mothers of atopic babies, as compared to healthy mothers of atopic babies. The polyamine levels were similar in colostrum from atopic and non-atopic mothers. However, putrescine and spermine levels were lower in mature milk from atopic mothers than non-atopic mothers. No relationship was found between milk putrescine and spermine levels and development of atopy in the children. In conclusion, low levels of human milk putrescine and spermine seem to be related to maternal atopy.     

24-Hour postural care and use of sleep systems in cerebral palsy

The purpose of this article is to explain the impact of secondary musculoskeletal problems in cerebral palsy and the impact with growth on body posture and how postural care and use of sleep systems can help protect and preserve body shape. Successful postural care relies on a family's engagement of the programme. To engage them education staff and health care workers require the awareness of the impact of body shape distortion and the fact it can be reduced or avoided through good postural care. A failure to provide good postural care increases the risks of physical changes in the bones and muscles and joints, which can lead to severe issues on an individual's respiration, circulation and their digestion. This can lead to compromising the internal organs and has the potential to lead to premature death. It is important for everyone involved in the care of children with CP to have knowledge and understanding of the importance of postural care. The child needs a team around them empowering the family through education and support. All clinicians should be able to identify who will need it, know how they can refer on to access assessment of the child and training for the family and be aware off the postural care plan as it is developed to get the right equipment in place. The benefits of an improved posture can result in reduced muscle tone, increased comfort, improved functioning and participation, and better sleeping patterns. This leads to an improved quality of life for the child and the family.     

Parent-infant synchrony and the construction of shared timing; physiological precursors, developmental outcomes, and risk conditions

Synchrony, a construct used across multiple fields to denote the temporal relationship between events, is applied to the study of parent-infant interactions and suggested as a model for intersubjectivity. Three types of timed relationships between the parent and child's affective behavior are assessed: concurrent, sequential, and organized in an ongoing patterned format, and the development of each is charted across the first year. Viewed as a formative experience for the maturation of the social brain, synchrony impacts the development of self-regulation, symbol use, and empathy across childhood and adolescence. Different patterns of synchrony with mother, father, and the family and across cultures describe relationship-specific modes of coordination. The capacity to engage in temporally-matched interactions is based on physiological mechanisms, in particular oscillator systems, such as the biological clock and cardiac pacemaker, and attachment-related hormones, such as oxytocin. Specific patterns of synchrony are described in a range of child-, parent- and context-related risk conditions, pointing to its ecological relevance and usefulness for the study of developmental psychopathology. A perspective that underscores the organization of discrete relational behaviors into emergent patterns and considers time a central parameter of emotion and communication systems may be useful to the study of interpersonal intimacy and its potential for personal transformation across the lifespan.     

Release of GI Hormones in Mother and Infant by Sensory Stimulation

ABSTRACT. It is well established that sensory stimulation is of great importance for the growth of and for the physiological and psychological development of infants. Supplementary sensory stimulation such as non-nutritive sucking and tactile stimulation has been shown to increase the growth rate and the maturation of premature infants. In human neonates non-nutritive sucking has a vagally mediated influence on the levels of some gastrointestinal hormones. In animal experiments afferent electrical stimulations of the sciatic nerves at low intensity leads to an activation of the vagal nerves and to a consequent release of vagally controlled gastrointestinal hormones such as gastrin and cholecystokinin. We therefore assume that both nonnutritive sucking and tactile stimulation trigger the activity of sensory nerves which leads to a release of vagally regulated gut hormones. Since gut hormones stimulate gastrointestinal motor and secretory activity and the growth of the gastrointestinal tract, and enhance the glucose-induced insulin release, they may contribute to the beneficial effects on maturation and growth caused by sensory stimulation. In the breast-feeding situation, the sucking of the child elicits similar reflexes in the mother leading to an activation of the maternal gut endocrine system and a consequent increase in energy uptake. These data indicate that many types of neurogenic reflexes induced in mother-infant interactions are of importance for the energy economy of both mother and child.     

Etiology of atopy in infancy: The KOALA Birth Cohort Study

The aim of the KOALA Birth Cohort Study in the Netherlands is to identify factors that influence the clinical expression of atopic disease with a main focus on lifestyle (e.g., anthroposophy, vaccinations, antibiotics, dietary habits, breastfeeding and breast milk composition, intestinal microflora composition, infections during the first year of life, and gene-environment interaction). The recruitment of pregnant women started in October 2000. First, participants with 'conventional lifestyles' (n = 2343) were retrieved from an ongoing prospective cohort study (n = 7020) on pregnancy-related pelvic girdle pain. In addition, pregnant women (n = 491) with 'alternative lifestyles' with regard to child rearing practices, dietary habits (organic, vegetarian), vaccination schemes and/or use of antibiotics, were recruited through organic food shops, anthroposophic doctors and midwives, Steiner schools, and dedicated magazines. All participants were enrolled between 14 and 18 wk of gestation and completed an intake questionnaire on family history of atopy and infant care intentions. Documentation of other relevant variables started in the pregnant mother and covered the first and third trimester as well as early childhood by repeated questionnaires at 14-18, 30, and 34 wk of gestation and 3, 7, 12, and 24 months post-partum. A subgroup of participants, including both conventional and alternative lifestyles, was asked to consent to maternal blood sampling, breast milk and a faecal sample of the infant at 1 month post-partum, capillary blood at age 1 yr, venous blood and observation of manifestation of atopic dermatitis during home visits at the age of 2 yr (using the UK working party criteria and the severity scoring of atopic dermatitis index), and buccal swabs for DNA isolation from child-parent trios. From the start, ethical approval and informed consent procedures included gene-environment interaction studies. Follow-up at 3 and 7 months post-partum was completed with high response rates (respectively 90% and 88% in the conventional group, and 97% and 97% in the alternative group). The home visits at 2 yr of age will be completed in 2005. Preliminary results show that we have succeeded in recruiting a large population with various lifestyle choices with a fairly large contrast with regard to dietary habits (including organic foods, vegetarian diet), vaccination schemes and/or use of antibiotics. We have also been able to collect a large number of faecal samples (n = 1176) and capillary blood samples at age 1 yr (n = 956). Furthermore, a large proportion of the participants have consented with genetic studies. Mid 2006 we expect to report our first results on the relationship between the various exposures in early life and childhood atopy. An outline of the focus and design of the KOALA Birth Cohort Study is presented.     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Quantitative measurements of the urinary excretion of creatinine,uric acid,hypoxanthine and xanthine,uracil, cyclic AMP,and cyclic GMP in healthy newborn infants

Serum creatinine, uric acid, and hypoxanthine and xanthine concentrations were determined in 17 mother-infant pairs at the time of delivery. Creatinine and uric acid levels were nearly similar, but hypoxanthine and xanthine were more than twice as high in the blood of the infants than in the blood of their mothers. In the same newborns the urinary excretion of creatinine, uric acid, hypoxanthine and xanthine, uracil, cAMP, and cGMP was measured on the first and fourth day of life. Creatinine, uracil, and cAMP increased, hypoxanthine and xanthine, and cGMP decreased, whereas the output of uric acid was nearly the same on both days. Correlations of the excreted substances to each other were calculated.Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthdaySupported by Deutsche Forschungsgemeinschaft     

新生儿重症监护病房医护人员对新生儿疼痛评估和镇痛管理的认知现状调查

目的 了解新生儿重症监护病房（neonatal intensive care unit，NICU）医护人员对新生儿疼痛评估和镇痛管理的认知现状。 方法 根据《新生儿疼痛评估与镇痛管理专家共识（2020版）》自制量表，采用此量表对江苏省新生儿科医疗质量控制中心成员单位的NICU医护人员发放问卷调查表，分析其对新生儿疼痛的基本知识、评估和管理的掌握水平。 结果 共收回有效问卷957份，其中医生383份，护士574份。医生与护士对新生儿疼痛基本知识的答题正确率的均值分别为38%和39%；对新生儿疼痛评估的答题正确率的中位值分别为0%和50%；对镇痛管理的答题正确率的均值分别为73%和68%。接受过疼痛相关培训的医护人员对新生儿疼痛基本知识和疼痛评估的答题正确率较未接受相关培训的医护人员显著增高（P<0.05）。三级医院医护人员对新生儿疼痛基本知识和疼痛评估的答题正确率较二级医院医护人员显著增高（P<0.05）。 结论 NICU医护人员对新生儿疼痛的认识不足，需开展有关新生儿疼痛知识的专项培训，建议侧重对《新生儿疼痛评估与镇痛管理专家共识（2020版）》的推广和临床应用，以提高医护人员对新生儿疼痛评估和镇痛管理的水平。     

Sepsis, severe sepsis and septic shock in paediatric multiple organ dysfunction syndrome

OBJECTIVES: To determine the association between severity of sepsis with outcome and severity of illness in children with multiple organ dysfunction syndrome (MODS). MATERIALS: Four hundred and ninety-five consecutive paediatric intensive care unit (PICU) admissions were analysed. multiple organ dysfunction syndrome was defined as simultaneous dysfunction of >/= 2 organ system and sepsis by the American College of Chest Physicians and Society of Critical Care Medicine Consensus Conference definition. RESULTS: Eighty-four patients developed MODS. The incidence of sepsis, severe sepsis and septic shock in these patients was 10.7%, 23.8% and 17.9%, respectively. Worsening categories of sepsis were associated with: (1) a higher mean admission Paediatric Risk of Mortality (PRISM II): 36.6 +/- 25.9, 56.8 +/- 32.1 and 73.6 +/- 28.5%, respectively (P = 0. 005), (2) a larger number of organ dysfunctions: mean MODS index of 37%, 46% and 58%, respectively (P = 0.007), and (3) a higher mortality: 22.2%, 65% and 80%, respectively (P = 0.03). CONCLUSION: Presence of sepsis, severe sepsis and septic shock was associated with an increasing severity of illness, increased number of organ dysfunctions and a distinct risk of mortality among critically ill children.     

阿糖胞苷代谢关键酶基因在儿童恶性血液肿瘤中的表达

目的通过检测儿童急性白血病(AL)及非霍奇金淋巴瘤(NHL)骨髓细胞内阿糖胞苷(Ara-C)代谢关键酶———脱氧胞苷激酶(DCK)和胞苷脱氨酶(CDA)的基因表达及酶活性水平,探索DCK和CDA表达与临床疗效的关系。方法共计31例患儿,其中初诊27例(ALL20例,AML3例,NHL4例),复发4例(ALL2例,AML、NHL各1例),采集患儿骨髓细胞,采用荧光定量PCR检测细胞内DCK、CDA基因表达,核素液闪法检测细胞内DCK、CDA酶活性,统计分析各组患儿的检测结果。结果 (1)DCK:ALL和NHL患儿DCK mRNA与酶活性水平均明显高于AML患儿(P0.05);初治患儿均明显高于复发患儿(P0.05);(2)CDA:AML和复发患儿的CDA酶活性水平明显高于ALL、NHL和初治患儿(P0.05),但各组病例间的CDA mRNA表达差异无显著性(P0.05)。(3)DCK和CDAmRNA表达与酶活性水平呈高度正相关。结论 AML以及某些复发的血液肿瘤患儿,其总体DCK酶活性及基因表达水平降低,CDA酶活性水平增高。DCK和CDA酶活性可能与儿童恶性血液肿瘤疗效相关。     

Meeting the Information Needs of Families of Children with Chronic Health Conditions

ABSTRACT

The aim of this study was to examine which child and family characteristics at the child's age of 2 years are determinants of development of self-care and mobility activities over a period of 2 years in young children with cerebral palsy (CP). Longitudinal data of 92 children, representing all levels of the Gross Motor Function Classification System (GMFCS), were analyzed. Children's self-care and mobility activities were assessed with the Functional Skills Scale of the Pediatric Evaluation of Disability Inventory. Development of self-care and mobility activities was related to several child determinants but no family determinants. GMFCS, type of CP, intellectual capacity, and epilepsy were related to the development of self-care and mobility activities, while manual ability and spasticity were related to development of mobility activities. Multivariate analysis indicated that GMFCS and intellectual capacity were the strongest determinants of development of self-care activities, and GMFCS was the strongest determinant of development of mobility activities. The change in self-care and mobility activities was less favorable in severely affected children with severe disability. Knowledge of GMFCS level and intellectual capacity is important in anticipating change over time and goal setting in young children with CP.     

A pragmatic randomised controlled trial on routine iron prophylaxis during pregnancy in Maputo,Mozambique (PROFEG): rationale,design, and success

The effects of prophylactic iron during pregnancy on maternal and child health in developing settings with endemic malaria and high prevalence of HIV remain unclear. This paper describes the rationale, implementation and success of a pragmatic randomised controlled trial comparing routine iron supplementation vs. screening and treatment for anaemia during pregnancy. The setting was two health centres in Maputo, Mozambique. Pregnant women (≥12‐week gestation; ≥18 years old; and not with a high‐risk pregnancy, n = 4326) were recruited. The main outcomes are preterm delivery and low birthweight. The women were randomly assigned to one of two iron administration policies: a routine iron group (n = 2184) received 60 mg of ferrous sulphate plus 400 μg of folic acid daily while a selective iron group (n = 2142) had screening and treatment for anaemia and a daily intake of 1 mg of folic acid. The recruitment, follow‐up, and collection of follow‐up data were successful; both groups were similar to each other in all the trial stages. Collection of delivery data was challenging and data on about 40% of births is missing. These are currently being traced through different hospitals and health centres. The compliance of the study personnel and the women with regard to regular measurement of haemoglobin and intake of the iron and folic acid tablets was high and similar in both trial arms. Taking into account the various constraints encountered, the stages of the present trial prior to delivery were carried out well.     

儿童无痛消化内镜诊疗的麻醉管理

近年来,儿童消化内镜诊疗技术迅速发展。其中,儿童无痛消化内镜顺应现代舒适化医疗的需求,为越来越多的患儿及其家长所接受。儿童及婴幼儿具有特殊的生长发育特点,该文阐述了儿童无痛消化内镜诊疗时麻醉方法的选择,及围手术期管理策略要点、麻醉相关并发症的处理等,有助于儿童无痛消化内镜诊疗的普及和安全开展。     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.