Abstract:
:Phenotypic and biological characterization of rare monogenic disorders represents 1 of the most important avenues toward understanding the mechanisms of human disease. Among patients with SH3 and multiple ankyrin repeat domains 3 (SHANK3) mutations, a subset will manifest neurologic regression, psychosis, and mood disorders. However, which patients will be affected, when, and why are important unresolved questions. Authors of recent studies suggest neuronal SHANK3 expression is modulated by both inflammatory and hormonal stimuli. In this case series, we describe 4 independent clinical observations of an immunotherapy responsive phenotype of peripubertal-onset neuropsychiatric regression in 4 girls with pathogenic SHANK3 mutations. Each child exhibited a history of stable, mild-to-moderate lifelong developmental disability until 12 to 14 years of age, at which time each manifested a similar, subacute-onset neurobehavioral syndrome. Symptoms included mutism, hallucinations, insomnia, inconsolable crying, obsessive-compulsive behaviors, loss of self-care, and urinary retention and/or incontinence. Symptoms were relatively refractory to antipsychotic medication but improved after immunomodulatory treatment. All 4 patients exhibited chronic relapsing courses during a period of treatment and follow-up ranging from 3 to 6 years. Two of the 4 girls recovered their premorbid level of functioning. We briefly review the scientific literature to offer a conceptual and molecular framework for understanding these clinical observations. Future clinical and translational investigations in this realm may offer insights into mechanisms and therapies bridging immune function and human behavior.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Bey AL,Gorman MP,Gallentine W,Kohlenberg TM,Frankovich J,Jiang YH,Van Haren Kdoi
10.1542/peds.2019-1490subject
Has Abstractpub_date
2020-02-01 00:00:00issue
2eissn
0031-4005issn
1098-4275pii
peds.2019-1490journal_volume
145pub_type
杂志文章,评审相关文献
PEDIATRICS文献大全abstract:OBJECTIVE:To identify patterns of sleep-wake transitions in the neonatal period that might differentiate premature infants who would show better or worse outcomes in multiple developmental domains across the first 5 years of life. METHODS:Participants were 143 low birth weight premature infants (mean birth weight: 148...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2011-0047
更新日期:2011-10-01 00:00:00
abstract:OBJECTIVE:Several studies have found decreased cost and length of stay for patients who are cared for by pediatric hospitalists compared with traditional faculty models. The objective of this study was to compare cost and length of stay between a faculty group and 2 separate hospitalist groups in a community teaching h...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2005-3146
更新日期:2006-10-01 00:00:00
abstract::For centuries, many physicians and parents assumed that it was ethically justifiable to lie to a dying child. The reasoning was clear. Because the lie would likely eliminate or prevent a concrete harm (the child's fear), and the lie is about a harm that is unavoidable anyway, a lie appeared to be the morally desirable...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2014-1394D
更新日期:2014-10-01 00:00:00
abstract::In adults with chronic kidney disease (CKD), reduced levels of vasculoprotective endothelial progenitor cells (EPCs) may contribute to their increased risk of cardiovascular disease. Children with CKD also show signs of cardiovascular disease. However, to our knowledge, there have been no studies on circulating EPC le...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2009-3346
更新日期:2010-10-01 00:00:00
abstract::Herpes simplex virus 1 and 2 infections affect up to 50 million people in the United States, with a natural history of recurrent viral shedding with or without recurrence of symptoms. Although many patients remain asymptomatic or with mild symptoms, a spectrum of rare but significant nervous system complications have ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2018-2631
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVES:To describe the epidemiology of foreign-body ingestions (FBIs) of children <6 years of age who were treated in US emergency departments from 1995 to 2015. METHODS:We performed a retrospective analysis using data from the National Electronic Injury Surveillance System for children <6 years of age who were tr...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2018-1988
更新日期:2019-05-01 00:00:00
abstract::Obesity has become a worldwide public health problem. Considerable research has shown that the media contribute to the development of child and adolescent obesity, although the exact mechanism remains unclear. Screen time may displace more active pursuits, advertising of junk food and fast food increases children's re...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2011-1066
更新日期:2011-07-01 00:00:00
abstract::Neonatal hyperviscosity syndrome is known to affect multiple organ systems. The effects of polycythemic hyperviscosity on cutaneous blood flow and transcutaneous PO2 and PCO2 were compared in ten term infants prior to and following correction of the hyperviscous state. Cutaneous blood flow was measured by the heat cle...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1984-09-01 00:00:00
abstract::Plastic bronchitis is a condition in which large, bronchial casts with rubber-like consistency develop in the tracheobronchial tree and cause airway obstruction. We describe a 4-year-old girl who had Fontan physiology and who developed plastic bronchitis and report for the first time the use of aerosolized tissue plas...
journal_title:Pediatrics
pub_type: 杂志文章,评审
doi:10.1542/peds.109.4.e67
更新日期:2002-04-01 00:00:00
abstract:OBJECTIVE:To determine the value of performing computed tomography (CT) on magnetic resonance imaging (MRI) studies in children with chronic headaches. BACKGROUND:Headache is a common complaint in children. With the proliferation of brain imaging centers and the increasing patient demand for CT or MRI studies, brain i...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1995-09-01 00:00:00
abstract::Previous epidemiological studies of juvenile chronic arthritis (JCA) report divergent results owing to differences in diagnostic criteria, patient retrieval, and study designs. To investigate incidence and prevalence of JCA in a total population, this prospective survey was performed in southwestern Sweden between 198...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1992-12-01 00:00:00
abstract:OBJECTIVES:To determine hepatitis B virus (HBV) carrier and infection rates and HBV epidemiology in Honolulu students. DESIGN:Cross-sectional survey. SETTING:Honolulu public elementary, intermediate, and high schools. PATIENTS:A volunteer sample of 4936 students from 43 Honolulu schools. MAIN OUTCOME MEASURES:HBV c...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1993-10-01 00:00:00
abstract::Age at diagnosis is a modifiable risk factor in outcomes after hepatoportoenterostomy in biliary atresia; however, distinguishing biliary atresia from other more common causes of prolonged neonatal jaundice can be difficult. To focus attention on diagnosis of biliary atresia, we analyzed secular trends in the age at d...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2007-2709
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVE:Sensitization to perennial aeroallergens is associated with asthma in industrialized countries with a Western lifestyle. Because silk products are commonly used in Chinese society, we were interested in examining the relation between sensitization to silk and asthma. DESIGN:Cross-sectional study of 871 child...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.107.5.e80
更新日期:2001-05-01 00:00:00
abstract:OBJECTIVE:There is no safe level of exposure to tobacco smoke. Thirdhand smoke is residual tobacco smoke contamination that remains after the cigarette is extinguished. Children are uniquely susceptible to thirdhand smoke exposure. The objective of this study was to assess health beliefs of adults regarding thirdhand s...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2008-2184
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Light smoking, consuming a few cigarettes daily, and intermittent, or nondaily, smoking patterns are increasingly common but carry health risks comparable to heavier smoking patterns. Nearly all smokers begin smoking as adolescents, who are at risk for developing these smoking patterns. Previous research sug...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2014-2502
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:Premature infants have bradycardia and/or desaturation events due to apnea of prematurity that resolve as the infants mature. Despite American Academy of Pediatrics guidelines recommending a standard "event-free" period before discharge, length of observation in our Intensive Care Nursery was variable. By Ju...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2019-0861
更新日期:2020-02-01 00:00:00
abstract:INTRODUCTION:Persistent patent ductus arteriosus (PDA) often produces hemodynamic and respiratory derangement necessitating use of inotropic drugs and escalating ventilatory support in premature infants. When medical therapy fails, surgical ligation is indicated. Because of the risks of transferring unstable neonates t...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.112.6.1298
更新日期:2003-12-01 00:00:00
abstract:OBJECTIVE:To evaluate the impact of 4 months of daily zinc supplementation on the incidence of severe and recurrent diarrhea in children 6 to 30 months of age. METHODS:A double-blind, randomized, placebo-controlled trial was conducted on children who were identified by a door-to-door survey to be aged 6 to 30 months a...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1542/peds.109.6.e86
更新日期:2002-06-01 00:00:00
abstract::To determine whether hospitalized pediatric patients may be inadvertently exposed to excessive amounts of commercial television, a survey of the quantity and quality of daytime television viewing by patients was conducted at the Winnipeg Children's Centre. Television viewing patterns were recorded for 845 patients, ea...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1981-11-01 00:00:00
abstract:BACKGROUND:Previous studies have shown an association between prematurity and attention- abstract deficit/hyperactivity disorder (ADHD). Results concerning late preterm infants are controversial, and studies examining fetal growth represented by weight for gestational age are scarce. Our objective was to examine the as...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2015-1043
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:To examine the relationship between pulmonary function, nutritional status, body image, and eating attitudes in children with cystic fibrosis (CF) compared with healthy controls. METHOD:Seventy-six children with CF (39 girls) and 153 healthy control children (82 girls) were recruited. All children were betwe...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.107.6.e92
更新日期:2001-06-01 00:00:00
abstract::The head circumference (HC) curves were plotted for a group of 415 healthy full-term babies over the first 2 years of life. Two hundred ten (51%) of the cohort demonstrated HC variability, defined as an HC acceleration or deceleration of at least 1 centile curve for at least 2 months. Of these, the deceleration patter...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1992-08-01 00:00:00
abstract:BACKGROUND:In 2010, 9120 cases of pertussis were reported in California, more than any year since 1947. Although this resurgence has been widely attributed to waning immunity of the acellular vaccine, the role of vaccine refusal has not been explored in the published literature. Many factors likely contributed to the o...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2013-0878
更新日期:2013-10-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:In Rwanda, significant progress has been made in advancing access to antiretroviral therapy (ART) among youth. As availability of ART increases, adherence is critical for preventing poor clinical outcomes and transmission of HIV. The goals of the study are to (1) describe ART adherence and men...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2015-3235
更新日期:2016-10-01 00:00:00
abstract:OBJECTIVE:This study validates the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), a screening tool for low-risk toddlers, and demonstrates improved utility compared with the original M-CHAT. METHODS:Toddlers (N = 16,071) were screened during 18- and 24-month well-child care visits in m...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2013-1813
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Motivational interviewing (MI) has been shown to be an effective strategy for targeting obesity in adolescents, and parental involvement is associated with increased effectiveness. The aim of this study was to evaluate and compare the role of parental involvement in MI interventions for obese a...
journal_title:Pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1542/peds.2014-1987
更新日期:2015-03-01 00:00:00
abstract:BACKGROUND:Early postnatal adaptation to transitional circulation in low birth weight infants frequently is associated with low blood pressure and decreased blood flow to organs. Catecholamines have been used widely as treatment, despite remarkably little empirical evidence on the effects of vasopressor/inotropic suppo...
journal_title:Pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1542/peds.2005-2108
更新日期:2006-06-01 00:00:00
abstract::Congenital or acquired hearing loss in infants and children has been linked with lifelong deficits in speech and language acquisition, poor academic performance, personal-social maladjustments, and emotional difficulties. Identification of hearing loss through neonatal hearing screening, regular surveillance of develo...
journal_title:Pediatrics
pub_type: 杂志文章,实务指引
doi:10.1542/peds.2009-1997
更新日期:2009-10-01 00:00:00
abstract::A growing body of scientific literature demonstrates that children who grow up with 1 or 2 gay and/or lesbian parents fare as well in emotional, cognitive, social, and sexual functioning as do children whose parents are heterosexual. Children's optimal development seems to be influenced more by the nature of the relat...
journal_title:Pediatrics
pub_type:
doi:10.1542/peds.109.2.341
更新日期:2002-02-01 00:00:00