2017年 · 第55卷第12期

autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by social communication disorders, narrow range of interests or activities, and repetitive stereotypical behaviors. In recent years, there have been great progress in the research on the incidence, etiological complexity, clinical manifestation diversity, identification, treatment and prognosis of early behavioral markers of ASD. At present, it is recognized that early identification, early behavioral intervention and education can significantly improve the prognosis of children with ASD^[1]。 Pediatricians, especially children's health physicians, are the first to know about children's behavioral development abnormalities. As early as 2007, the United States formulated guidelines for ASD identification and management for primary care pediatricians. China has also made great progress in ASD identification and intervention in the past 10 years. However, most pediatricians do not recognize the early behavioral manifestations of ASD enough. Therefore, the Developmental Behavior Group of the Pediatrics Branch of the Chinese Medical Association, the Child Health Care Professional Committee of the Pediatrics Branch of the Chinese Medical Doctors Association and the expert group of the National Health and Family Planning Commission's health industry special project "Research on Techniques and Standards for Diagnosis and Prevention of Children's Autism", according to the principles of scientificity, popularization and operation, formulated the "Consensus on Early Identification, Screening and Early Intervention of Children with Autism Spectrum Disorder" in China for the first time.^[2]。 In the process of formulating the consensus, experts from the rehabilitation group and the gastroenterology group were invited to participate in the discussion, targeting primary children's health care physicians, general pediatricians and general practitioners, referring to the guidelines of pediatric societies in the United States and the United Kingdom, and combining with the actual development level of my country, four papers reflecting the research progress of ASD comorbidities in my country were also published in the same period^[3,4,5,6]。

Since the 68th anniversary of the founding of the People's Republic of China, due to the rapid development of social economy and the progress of pediatric medicine, the health status of children in China has improved significantly, and the spectrum of children's diseases has undergone great changes. On the one hand, the prevalence of serious infectious, infectious and nutritional diseases has decreased significantly, and the child mortality rate has decreased significantly; On the other hand, the changes in society and family, mainly the changes in family structure and the increased requirements of schools for children's performance in school, the pressure faced by children is rising, and the developmental behavior problems are rising significantly; The progress of perinatal medicine has significantly improved the success rate of severe and critical newborns and infants, and many surviving children have developmental behavior problems; In the past, it was thought that developmental behavioral disorders such as intellectual development disability and autism were "untreatable", but now there are new understanding and effective diagnosis and treatment strategies and means; The traditional medical model pays attention to diseases, and the bio-psychosocial medical model requires that the whole person care for children be reflected in pediatric clinical practice, paying attention to the behavior and development of children in normal children and somatic diseases; Child behavioral problems have always seemed to be of concern to psychiatrists or psychological departments in the past, and pediatricians are neither aware of nor seem to care about traditional psychiatric interventions. However, in recent years, due to great advances in such fields as genomics, neuroscience, rehabilitation medicine, psychopharmacology, bioinformatics, etc., pediatricians have become interested in such problems. pediatrics focuses on the whole childhood health problems from birth to adulthood. It is naturally the responsibility of pediatrics to deal with childhood development and behavior problems, and developmental-behavioral pediatrics (DBP) came into being^[1]。

Developmental behavioral pediatrics mainly studies the changes of behavioral characteristics and the causes and treatment of behavioral disorders caused by children's central nervous system development, which is an important foundation of pediatrics^[1]。 The biggest difference between children and adults is that children are in the process of rapid growth and development, and their behavioral characteristics change with age, which is a sensitive index to reflect the development of internal organs of the body. Various disease states as well as dysfunctions, without exception, exhibit explicit behavioral changes that are sometimes difficult to detect and sometimes very significant. The basis of judging behavior abnormality is to be familiar with the milestones of behavior development of children of all ages, understand the range of behavior variation and the boundary of abnormal behavior, so as to capture the signs of abnormal behavior in time, which is of great significance for pediatric clinical diagnosis^[2]。 Therefore, it is necessary for all sub-specialties of pediatric clinics to master the basic knowledge and skills of developmental behavioral pediatrics, which is not only conducive to better diagnosis and treatment of various diseases in this professional field, but also can promote children's growth and development in an all-round way and ensure children's good quality of life, so as to maximize the recovery of children's disease state.

autism spectrum disorder (ASD), abbreviated as autism and synonymous with autism, is a group of neurodevelopmental disorders characterized by social communication disorders, narrow range of interests or activities, and repetitive stereotypical behaviors^[1]Since Dr. Leo Kanner first reported childhood autism in 1943, the names and diagnostic criteria for autism and its related disorders have been changing. On May 18, 2013, the American College of Psychiatry released the Diagnosis and Statistical Mannual of Mental Disorders-fifth edition, DSM-5, which formally proposed the concept of ASD. Early reports of autism is a rare disease. Epidemiological survey data in the past 20 years show that the prevalence of ASD is on the rise worldwide, and it is estimated that the global prevalence rate is about 1%^[2]。 There is no drug to treat the core symptoms of ASD. For a long time, scholars generally believe that most children with ASD have poor prognosis and do not have the ability to live, study and work independently in adulthood, which becomes a heavy burden on their families and society^[3,4]。 However, in recent years, more and more studies have found that early detection, early behavioral intervention and education can significantly improve the poor prognosis of ASD children^[5]。

urinary tract infection (UTI) is one of the most common infectious diseases in pediatrics^[1]And infant UTI is often combined with congenital urinary tract malformations such as vesicoureteral reflux (VUR) (VUR can be as high as 20% ~40% in infant febrile UTI). VUR and repeated UTI can lead to persistent kidney damage and scarring, which may cause hypertension and chronic kidney disease. It is particularly important to detect and diagnose UTI in infants and young children early and to give reasonable treatment. In November 2010, the Nephrology Group of Pediatrics Branch of Chinese Medical Association published the guidelines for diagnosis and treatment of UTI in the Chinese Journal of Pediatrics^[2]It has played a positive role in standardizing the diagnosis and treatment of the disease. In recent years, many countries have published guidelines on pediatric UTI, and relevant domestic studies and many large-scale foreign studies (PRIVENT, RIVUR, Swedish Trial) have been carried out one after another, which has prompted us to update our opinions and diagnosis and treatment measures in time. Therefore, this guideline is based on the 2010 guidelines, through comprehensive inquiry, analysis and evaluation of new research evidence, solicitation of opinions from all parties, and full discussion and reaching consensus. The aim is to provide clinical pediatricians with operable reference schemes for the diagnosis and treatment of pediatric UTI in China that meet China's national conditions, and help clinicians choose the current relatively good diagnosis and treatment methods for children with UTI. This guide is mainly applicable to clinical pediatricians who have a certain professional foundation in pediatric nephrology and have received professional training or training in pediatric nephrology, especially to provide clinical reference for pediatric nephrologists. In clinical practice, physicians should refer to the principles of this guideline and carry out individualized treatment according to the specific condition of patients.

This "Evidence-based Guidelines for the Diagnosis and Treatment of Urinary Tract Infections (2016)" (referred to as the "Guidelines" for short) was revised on the basis of the 2010 Guidelines through comprehensive inquiry, analysis and evaluation of new research evidence, solicitation of opinions from all parties and full discussion to reach consensus, so as to provide clinical pediatricians with an operable reference plan for the diagnosis and treatment of UTI in Chinese children in line with China's national conditions. This update of guidelines is mainly in the two aspects of imaging examination and selection process and the use of preventive antimicrobial drugs. Now we will interpret and explain these two aspects.

A 42-day-old male was admitted to the Children's Intensive Care Unit of Tengzhou Central People's Hospital on February 16, 2017 due to "systemic cyanosis with poor response for 2 h". After breastfeeding 2 hours ago, the child developed whole body bruises, moans with poor response, no cough, spitting, vomiting, diarrhea, fever, convulsions, and rash. There was no special diagnosis and treatment outside the hospital. Personal History: 36⁺²Weekly cesarean section, 1st and 2nd birth, identical twins, twin size, birth weight 2 300 g, postnatal Apgar score 1 min10, 5 min10. Artificial feeding after birth, no history of well water, repeated steaming hot water, solar hot water mixing milk, no history of using black diaper. Family history: identical twin brother, birth weight 2 800 g, no history of cyanosis, same feeding and living environment.

The child was a female, 2 years old and 10 months old, Uyghur nationality. She was seen in the First Affiliated Hospital of Xinjiang Medical University in May 2016 because she "found no vaginal opening for more than 2 years". The child was found to have no vaginal opening at birth. The child was the first birth, the first birth, a full-term cesarean section, with a birth weight of 3 900 g. There was no history of asphyxia or birth injury at birth, no abnormal feeding history, no abnormal growth and development history, and normal behavior. The child is extroverted and lively, has no special gender orientation, and likes red and pink toys. The parents were not intimate married and had no history of familial genetic disease. Physical examination: Female appearance, height 97 cm, weight 17 kg, body mass index 18.07. Blood pressure 80/50 mmHg (1 mmHg =0.133 kPa). There were no abnormalities in development and no abnormalities in face. There are labia majora and labia minora, and the urethral opening is located on the inside of the labia majora. There is no clitoris and vaginal opening, and there is no scrotum or penis. Physical examination of the groin showed no mass, liver and spleen showed no enlargement. No abnormalities were found in heart and lung. No abnormalities were found in the spine and limbs. Auxiliary examinations: blood routine, urine routine, stool routine, biochemistry, thyroid function, corticotropic hormone, cortisol rhythm, etc. were not abnormal. estradiol (E2) 16.65 pmol/L; 17 hydroxyprogesterone (17OHP) 0.30 µg/L; luteinizing hormone (LH) 3.38 U/L; Follicle stimulating hormone (FSH) 8.68 U/L, suggesting gonadal dysplasia; Testosterone 0.01 nmol/L; After gonadotropin-releasing hormone (GnRH) challenge test: LH 24.48 IU/L; FSH 22.33 IU/L; After chorionic gonadotropin (hCG) challenge test and prolongation test: testosterone 0.01 nmol/L; Karyotype 46, XY. Scrotal ultrasound: Testicular echoes were seen in the area near the inguin of bilateral labia majora. The size of the right testis was 2.0 cm ×0.7 cm ×0.9 cm, and the size of the left testis was 1.7 cm ×0.7 cm ×0.9 cm. The echoes of both testes were uniform, and there was no enlargement of the bilateral testes, and no fluid accumulation was seen in the sheath cavity. Gynecological ultrasound: No uterus was seen, and bilateral ovaries were unclear. Testicular histopathological biopsy (Figure 1It was suggested that the wall of seminiferous tubules (left and right testes) was composed of primitive spermatogenic epithelium (1~2 layers), interspersed with some scattered fusiform supporting cells, and there was no obvious thickening of the wall and no clear interstitial cells between the tubules. Diagnosis 46, abnormal XY sex differentiation with hypoplasia of testicular mesenchymal cells. The heterozygous point mutation of exon 10 c.878C>A (p.S293X) of LHCGR gene on chromosome 2 in children and their parents was found, and heterozygous point mutation of exon 4 c.349G>A (p.G117R) in LHCGR gene in children and their mothers suggested that c.878C>A (p.S293X) was a possible pathogenic mutation, and c.349G>A (p.G117R) was a pathogenic mutation (Figure 2）。 The parents of the child decided to continue to raise the child as a female. After passing the ethical approval, they underwent bilateral orchiectomy in our hospital, and planned to undergo vaginoplasty and estrogen administration after puberty.

The cause of Crohn's disease is still unknown, but it may be related to various factors such as human genes, microbes, immune response and changes in the intestinal environment. About 25% of inflammatory bowel diseases occur in childhood or adolescence. Due to the special nutritional and growth and development needs in childhood, Crohn's disease is easy to cause children's growth and development disorders (including backward bone age, sexual development, height, weight, etc.)^[1]。 Nutritional support therapy is an important part of the treatment of Crohn's disease. 1973 Voitk et al.^[2]It was found that intestinal inflammation was improved in patients with Crohn's disease who underwent nutritional support during the perioperative period, proposing for the first time that enteral nutrition therapy has a pharmacological effect on inflammatory bowel disease. Since then, a large number of studies have begun to explore the therapeutic role of total enteral nutrition (EEN) in Crohn's disease. EEN refers to a feeding method in which specialized liquid nutrition preparations are used as the sole source of nutrition without adding any regular diet^[3]。 The role of EEN in the treatment of Crohn's disease and its mechanism of action are summarized.

activated phosphoinositide 3-kinase-delta (PI3K δ) syndrome (APDS) is a rare autosomal dominant primary immunodeficiency disease (PID). The worldwide largest case report of 53 patients, a basic complete description of the clinical presentation of this disease. The enhanced function of PI3K-AKT-mTOR pathway caused by PI3K δ overactivation provides a classic paradigm for clinical targeted therapy with rapamycin (mTOR inhibitor) and specific p110 δ small molecule inhibitors. The latest progress in the pathogenesis, clinical manifestations, and targeted therapy of APDS is reviewed to improve the understanding of this disease among pediatricians in China and help everyone understand how to practice precision medicine in APDS.

Recently, this situation has occurred in the ethical management of clinical research. When applying for the fund for project approval, the researchers directly conduct research after receiving funding from the fund, but they find that this practice does not conform to the ethical management norms when publishing the paper or finishing the acceptance of the project, and lacks the post-project ethical review management.