Disparities in pediatric preventive care in the United States, 1993-2002

OBJECTIVES: To quantify physician-reported preventive counseling and screening during well-child visits (WCVs) and to examine racial and ethnic disparities in these activities. DESIGN: Cross-sectional study using the National Ambulatory Medical Care Survey, January 1993 through December 2002. SETTING: Office-based physician practices. PARTICIPANTS: Children from birth to 18 years old who were seen by a physician for a WCV. MAIN OUTCOME MEASURE: Preventive counseling and screening. RESULTS: Well-child visits were shorter for Latino children than for white or black children. At WCVs, white children were more likely to receive preventive counseling than were black or Latino children (72% vs 61% vs 61%, respectively; P = .01) but not more likely to receive screening for elevated blood pressure, anemia, vision and hearing acuity, or lead toxicity. There were no differences in secondary diagnoses made at WCVs for white, black, or Latino children (15% vs 17% vs 14%, respectively; P = .65). The children who received the least counseling were Latino children in the public sector non-health maintenance organization setting (counseled at 39% of visits) and Latino children who self-paid for the visits (counseled at 26% of visits). After adjusting for possible confounders, including medications prescribed at the visit, black and Latino children were less likely to receive counseling than were white children (odds ratios, 0.68 and 0.63; 95% confidence interval, 0.48-0.97 and 0.44-0.90, respectively), and black children were less likely to receive preventive screening services (odds ratios, 0.65; 95% confidence interval, 0.45-0.93). CONCLUSIONS: By physician report in a nationally representative sample, black and Latino children received less counseling at WCVs than did white children. These disparities were unexplained by the competing demands of other secondary diagnoses or medications prescribed or dispensed.     

Primary immunodeficiency disorders in children: prompt diagnosis can lead to lifesaving treatment.

Primary immunodeficiencies in children are rare, but an early diagnosis can improve long-term quality of life and prevent rapid deterioration of the immune system. More than 70 immunodeficiency diseases have been identified and are classified according to the areas of the immune system that are compromised. When a suspicious history or an uninterrupted pattern of infections leads the practitioner to suspect immunodeficiency, it is essential that proper immunologic testing be initiated as soon as possible. Once a diagnosis is established, the practitioner and a team of experts all are involved in the multidisciplinary treatment, counseling, and longitudinal care of children with primary immunodeficiency.     

Non-epileptic Paroxysmal Events Mimicking Seizures

The diagnosis of epilepsy rests on a detailed history and examination. The main focus of such a history is to exclude the possibility of non-epileptic paroxysmal events. An incorrect diagnosis of epilepsy can potentially lead to physical, psychological and financial harm to the child and the family. A wide range of non-epileptic paroxysmal events can occur in children. The differentiation of a seizure mimic from a seizure relies solely on a proper history and review of video recordings. Investigations rarely help in the diagnosis of these events. An early and timely diagnosis and proper parental counseling helps avoiding unnecessary investigations, treatment and allays parental anxiety. The article reviews the common non-epileptic paroxysmal events in children, emphasizing clinically relevant points.     

Genetic counseling

Genetic counseling is a process of communicating medical aspects about a genetic disorder, especially the information regarding risk of occurrence as recurrence of the disease in the family and preventive options. Accurate diagnosis of the affected member is of paramount importance for genetic counseling. Special genetic investigations like DNA analysis and chromosomal analysis are essential for many cases and especially when prenatal diagnosis is necessary. It is essential for pediatricians to identify cases with genetic disorders or possibly genetic disorders. These cases should be adequately worked up to identify accurate etiology as far as possible. The investigations should be done even if they are not going to make any difference in the outcome of the child. The genetic disorders present not only in neonates, but also in children, stillbirths and fetuses. Hence, autopsy of stillbirth and fetuses terminated after prenatal diagnosis is essential for genetic counseling. The importance of genetic counseling as an integral part of management of genetic disorders has to be realized by all clinicians. Pediatricians with short training can take over the responsibility of providing counseling for common genetic disorders and may need to refer others to genetic centre for counseling and prenatal diagnosis.     

《国际专家建议：需立即转诊进行脑性瘫痪诊断评估的临床特征》解读

近年来在国家政策的引导和支持下,社区医疗体系得到空前发展,其中,初级儿童保健在社区医院常规开展,大大缓解了儿童专科医院及二三级综合医院儿科的压力。但由于社区医疗机构儿童初级保健人员未接受专业培训,对脑性瘫痪（简称脑瘫）儿童早期出现的症状不能识别,常导致脑瘫患儿不能得到及早诊断和有效干预,从而影响预后。2020年在Development Medicine and Child Neurology发表的一篇专门针对社区医疗机构的早期脑瘫识别和转诊的国际专家建议,明确提出了应立即转诊的6个临床特征和应加强监测的2个“警告信号”,以及在转介给医学专家进行脑瘫诊断的同时,应考虑转介给其他专业人员的5个转诊建议。该建议有助于社区医疗机构儿童初级保健人员及早发现脑瘫高危儿,及时转诊并减少干预的延迟。该文结合国内的实际情况对该建议进行解读,以期提高我国社区医疗机构儿童初级保健人员识别脑瘫高危信号及合理转诊的能力,达到早发现、早诊断、早干预,改善脑瘫儿童预后。     

Effect of oral supplementation on catch-up growth in picky eaters

Ninety-two subjects ages 36 to 60 months who had picky-eater behavior and evidence of growth faltering were randomized to receive either nutrition counseling alone, or nutrition counseling plus a nutritional supplement (Study) for 90 days. The Study group had significantly greater increases in weight and height. There were no significant differences between groups in changes in appetite or activity levels, or in gastrointestinal symptom scores. The percent of subjects who developed upper respiratory tract infections was significantly lower in the Study group. These data suggest that a nutritional supplement in addition to nutrition counseling promote catch-up growth and may contribute to lower rates of infectious disease in children with picky eater behavior.     

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??Early interventions are comprehensive services which provide preventive and treatment measures to 0??3 year-old children with developmental disorder??DD?? and DD risk or significant developmental delays??to help them improve their abilities of cognition??emotion?? behavior and social adaptation and support the adaptive capacity of the families. The basic principles of early intervention include early stage??emphasizing the importance of relationships within the family??individualized intervention??focusing on social adaptation??training a variety of comprehensive developmental abilities??cooperation of multi-discipline and multi-system. Early intervention management should adopt systematic management mode??involving pediatricians??family??special education institutions and social public welfare organizations??Council for special children. Early intervention services cover 6 aspects such as medical diagnosis??developmental assessment and nursing services??direct early intervention services of medical institutions??personalized family services??parental education??counseling and technical support. Early intervention methods for DD children include portage guide to early education??parenting skills training??PST?? and other methods.     

Syncope in Pediatric Practice

Syncope is defined as a sudden, self-limited loss of consciousness and postural tone followed by spontaneous and complete recovery without any neurological sequelae. It is one of the most common paroxysmal disorders in children and adolescents. The three major causes of syncope in children are neural, cardiovascular and other non-cardiovascular causes. The common unifying mechanism is transient global hypoperfusion of the brain. The diagnosis is primarily clinical and objective laboratory investigations add little to the diagnosis in children especially in neurocardiogenic subtype. Specific management depends on the underlying cause of syncope in children. For cardiac causes, management includes early referral to the pediatric cardiology specialist. When paroxysmal non-epileptic events are suspected, child psychology or psychiatry consultation should be sought to identify the stressors and counseling. For neurocardiogenic syncope, the main objective of treatment is to prevent recurrent events to improve the quality of life, psychological stress and school absenteeism by behavior and lifestyle modifications followed by drugs in refractory cases. The prognosis is excellent for neurocardiogenic syncope and is variable based on the underlying pathology in cardiogenic cases. As syncope is not a disease in itself but a symptom of an underlying disorder; hence, all children with syncope require assessment to exclude an underlying life-threatening cardiac or non-cardiac disorder.     

Structural abnormalities of the craniofacial complex and congenital malformations

This article was meant to be a very cursory survey of the multiple defects that abnormal development can produce in all areas of the craniofacial complex. Careful examination for these abnormalities should lead the clinician to earlier referral of patients for additional examination by a genetics team. This often enables more focused care for the individual and better counseling concerning future pregnancies. Aase points out that "funny looking face" or "syndromic facies" is no longer helpful. Accurate assessment of the face with measurement leads to better diagnosis and ultimately better patient care. All children with facial defects deserve early intervention by a multidisciplined craniofacial team including geneticists, surgeons, dentists, speech pathologists, and other specialists. Part of the process of early referral to this team involves early detection and recognition in the neonatal period. It is hoped that this article stimulates the pediatrician to be aware of these abnormalities, recognize their importance, and seek additional help for patients, no matter what their age.     

Dysmorphology: an approach to a child with structural defects

An approach to children with structural defects has been presented. The ultimate goal of this approach is a specific overall diagnosis. In such cases appropriate genetic counseling for the parents, accurate prognostication relative to the child's future development and an appropriate plan to help the child reach his potential usually are possible. When an overall diagnosis is lacking, the most that can be expected is a better understanding of the nature and onset of the problem. That in itself can often be helpful to patients and to all others dealing with children having structural defects.     

Genetic predisposition to cancer: Surveillance and intervention

Cancer is one of the leading causes of early mortality for children and adolescents. Identifiable genetic cancer predisposition conditions account for a growing proportion of pediatric and adolescent cancer, likely due to increasing knowledge about various predisposition conditions, more widespread cancer genetic counseling, and available diagnostics. Greater awareness, data-driven surgical intervention and clinical surveillance can help facilitate cancer prevention and early detection at cancer stages more amenable to cure. An extensive literature review of published studies and expert opinion with consensus guidelines are reviewed. Specific syndromes where genetics, imaging and surgical intervention are utilized to benefit affected patients and families are presented. In many tumor predisposition syndromes, the underlying genetic diagnosis is made concurrently, or after, malignancy is identified. Improved recognition of underlying predispositions, along with appropriate surgical interventions and imaging surveillance should lead to increased patient survival.     

Ligneous conjunctivitis: an autosomal recessive disorder

Two siblings, a boy and a girl, developed a chronic, bilateral conjunctivitis with large recurrent pseudomembranes. The diagnosis of ligneous conjunctivitis was made by excisional biopsies in both. The family was referred for genetic counseling after the second child developed the disorder. On the basis of this family and previous reports, we believe that ligneous conjunctivitis is a genetic disorder inherited in an autosomal recessive pattern and that genetic counseling should be offered to the parents of affected children.     

Defining oppositional defiant disorder

BACKGROUND: ICD-10 and DSM-IV include similar criterial symptom lists for conduct disorder (CD) and oppositional defiant disorder (ODD), but while DSM-IV treats each list separately, ICD-10 considers them jointly. One consequence is that ICD-10 identifies a group of children with ODD subtype who do not receive a diagnosis under DSM-IV. METHODS: We examined the characteristics of this group of children using the Great Smoky Mountains Study of children in the community aged 9-16. This study provided child and parent reports of symptoms and psychosocial impairment assessed with standardised diagnostic interviews. RESULTS: Children who received an ICD-10 diagnosis but not a DSM-IV diagnosis showed broadly similar levels of psychiatric comorbidity, delinquent activity and psychosocial impairment to those who met DSM-IV criteria in both cross-sectional and longitudinal analyses. CONCLUSIONS: These results indicate that DSM-IV excludes from diagnosis children who receive an ICD-10 diagnosis of CD (ODD sub-type), and who are substantially disturbed. Methods of redressing this situation are considered.     

Psychological Disorders and Their Correlates in an Australian Community Sample of Preadolescent Children

The nature and correlates of psychological disorders of preadolescent children from the longitudinal Australian Temperament Project (ATP) are reported. Almost half of the children identified via checklists completed by mothers, teachers, and the children themselves as being in the at-risk range for disorder received a DSM-III-R diagnosis. Nine per cent of comparison, or low-risk, children also received a diagnosis. Internalising disorders were the most common, and 44% of cases had multiple problems. Children rated as problematic by all three informants or by child plus teacher were the most likely to receive a diagnosis. The at-risk group had more difficult temperament, poorer family and peer relationships, lower levels of social skills, and were of lower SES than the comparison group. There were minimal differences on these variables between at-risk children who did, or did not, receive a DSM-III-R diagnosis. It is argued that especially for boys, checklists from multiple informants are effective tools for identifying clinically significant disorders.     

Self-esteem in children medically managed for attention deficit disorder

Self-esteem was measured initially in a group of 21 eight- to 12-year-old children with newly diagnosed attention deficit disorder/hyperactivity and remeasured after 1-month courses of treatment with methylphenidate and placebo given in double-blind crossover fashion. Multimodal management of all patients included diagnosis, demystification, medication, close follow-up with supportive counseling, and referral as indicated for psychosocial and educational assistance. Long-term follow-up of 12 children who continued to receive methylphenidate was done for an average of 16 months. Initial total self-esteem was low in 30% of all subjects, intermediate in 55%, and high in 15%. No statistically significant changes occurred in self-esteem during the short-term phase of the study despite clinically significant behavioral responses to medication as assessed by serial questionnaires. At long-term follow-up, total, general, and academic self-esteem scores were improved significantly, however. These findings indicate that many preadolescents with attention deficit disorder/hyperactivity exhibit low self-esteem. Despite clinical response to medication, short-term improvement in self-esteem may not occur; however, long-term, multimodal management that includes medication does appear to improve self-esteem.     

人类免疫缺陷病毒感染儿童疫苗接种情况调查

目的 了解人类免疫缺陷病毒（HIV）感染患儿这一特殊群体疫苗接种情况。方法 对截至2016年12月31日,在国家艾滋病综合防治信息系统中,现住址为湖南省、确诊HIV感染时年龄在15岁以下、可随访到的HIV感染患儿148例进行问卷调查,了解其疫苗接种、HIV感染诊断及相关疾病诊断治疗情况。结果 148例HIV感染患儿中,男70例（47.3%）,女78例（52.7%）;140例（8例拒答）知晓确诊感染HIV时的年龄为3.8（0.2~14.8）岁;感染来源为母婴传播133例（91.7%）,血液传播1例（0.7%）,不详14例（9.5%）;129例（87.2%）接受抗病毒治疗,未治疗19例（12.8%）。乙肝疫苗、卡介苗、脊灰减毒活疫苗、百白破三联疫苗接种率相对较高（70.9%~77.7%）,但远低于全国水平（≥ 97%）,后续疫苗的接种率随患儿年龄增长逐步降低。患儿接种疫苗后无严重不良反应。结论 国内儿童HIV感染途径主要是母婴传播,HIV感染儿童诊断延迟明显,疫苗接种率低,需要加强HIV感染患儿的早诊断、早治疗及疫苗接种,提高患儿生存质量。     

Triple A syndrome--diagnostic and management issues

The authors present a family with three children affected with triple A syndrome — one had died, one was saved by diagnosis and timely therapy, and one was born after the diagnosis in the second child. The gene for the syndrome has been cloned and genetic counseling should be offered to these families.     

Cholesterol screening in children during office visits

Elevated blood cholesterol levels, a major risk for coronary artery disease in adults, has been associated with atherosclerotic disease in children. More than 10% of North American children have blood cholesterol levels higher than the desirable levels for adults. Current guidelines recommend screening only in children who have a family history of hyperlipidemia or myocardial infarction at an early age; however, this method fails to identify most children with hypercholesterolemia. Office-based cholesterol screening is an effective means to identify children and family members for dietary assessment and counseling. Should these measures be insufficient to lower the child's cholesterol level, referral for pharmacologic treatment is indicated.     

Wolf-Hirschhorn综合征4例及文献复习

目的　探讨Wolf-Hirschhorn综合征（WHS）临床特征及基因突变。方法　回顾分析2017-11-20—2018-05-26南京医科大学附属儿童医院收治的4例发育延迟及智力低下患儿的临床资料,临床拟诊为WHS。应用染色体微阵列芯片分析技术进行基因检测,并复习相关文献总结疾病特点。结果　2例男性和2例女性患儿因生后特殊面容（希腊头盔样面容）、智力低下、发育延迟、肌张力低下、癫痫,应用染色体微阵列芯片分析技术发现患儿4p16.3区域2.24～3.8 Mb的缺失,确诊WHS,给予抗癫痫及康复治疗并定期随访。结论　尽早完善染色体芯片技术检查有助于早期诊断WHS,且能判断预后。染色体微阵列芯片分析与传统细胞遗传学分析方法相比,具有高分辨和高准确度的优点,可为产前遗传学诊断提供更详细信息。     

Wolf-Hirschhorn综合征4例及文献复习

目的　探讨Wolf-Hirschhorn综合征（WHS）临床特征及基因突变。方法　回顾分析2017-11-20—2018-05-26南京医科大学附属儿童医院收治的4例发育延迟及智力低下患儿的临床资料，临床拟诊为WHS。应用染色体微阵列芯片分析技术进行基因检测，并复习相关文献总结疾病特点。结果　2例男性和2例女性患儿因生后特殊面容（希腊头盔样面容）、智力低下、发育延迟、肌张力低下、癫痫，应用染色体微阵列芯片分析技术发现患儿4p16.3区域2.24～3.8 Mb的缺失，确诊WHS，给予抗癫痫及康复治疗并定期随访。结论　尽早完善染色体芯片技术检查有助于早期诊断WHS，且能判断预后。染色体微阵列芯片分析与传统细胞遗传学分析方法相比，具有高分辨和高准确度的优点，可为产前遗传学诊断提供更详细信息。