Abstract:
:The fragile X syndrome, a common X-linked form of mental retardation and autism, affects females as well as males. Previous work has shown that approximately 35% of heterozygotes (women who carry the fragile X gene) demonstrate cognitive impairment. Thirty-two girls, 18 years or younger, who demonstrate the fragile X chromosome were evaluated and compared with 19 sisters who do not demonstrate the fragile X chromosome. Evaluations included a physical examination, behavioral assessment, and intelligence testing. Significant differences (in intellectual, behavioral, and physical features) were seen between the two groups. Twenty-five percent of fragile X-positive girls had an IQ in the mentally retarded range (IQ less than 70) and 28% had an IQ in the borderline range (70 to 84). Prominent ears, shyness, and poor eye contact were significant findings in fragile X-positive girls compared with fragile X-negative girls. Thirty-one percent of the fragile X-positive girls had significant attentional difficulties and most of these girls were successfully treated with stimulant medication. The majority of fragile X-positive girls in this study demonstrated significant behavioral and developmental problems which required identification and appropriate treatment. Pediatricians and health care providers should be aware of the frequency and manner with which fragile X affects females in order to initiate cytogenetic studies and treatment when indicated.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Hagerman RJ,Jackson C,Amiri K,Silverman AC,O'Connor R,Sobesky Wsubject
Has Abstractpub_date
1992-03-01 00:00:00pages
395-400issue
3eissn
0031-4005issn
1098-4275journal_volume
89pub_type
杂志文章相关文献
PEDIATRICS文献大全abstract:BACKGROUND AND OBJECTIVES:Hypertension is highly prevalent in pediatric kidney transplant recipients and contributes to cardiovascular death and graft loss. Improper blood pressure (BP) measurement limits the ability to control hypertension in this population. Here, we report multicenter efforts from the Improving Rena...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1542/peds.2019-2833
更新日期:2020-07-01 00:00:00
abstract::The oral absorption and elimination of quinidine in pediatric patients was studied. Single oral doses of quinidine sulfate were administered to 13 patients ranging in age from 4 to 22 years of age. Serum quinidine concentration reached a peak within 30 minutes to two hours after drug administration. The serum half-lif...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1982-09-01 00:00:00
abstract::A prospective study was conducted to assess the applicability of the Denver Prescreening Developmental Questionnaire (DPDQ) in a predominantly black, low-income population in Mobile, Alabama. The effect of an educational intervention designed to increase the accuracy of parental responses to the DPDQ was also assessed...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1983-03-01 00:00:00
abstract::This report describes an 8-year-old child with acute anthracycline-induced cardiomyopathy triggered by human herpesvirus 6 and the subsequent implantation of an intracorporeal continuous-flow left ventricular assist device (LVAD) and the process to discharge the child from the hospital. After barely 3 months on mechan...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2013-2272
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:To describe the prevalence of continuity of care over a 5-year period in a complete cohort of urban children universally insured for medical care provided under fee-for-service reimbursement. METHOD:All children enrolled in the study were born to women living in metropolitan Winnipeg between July 1, 1987 and...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1996-12-01 00:00:00
abstract:OBJECTIVES:To assess the annual prevalence of physical violence from dating partners among a representative sample of sexually experienced adolescent girls attending US public and private high schools, as well as sexual risk behaviors and pregnancy among this population. DESIGN, SETTING, PARTICIPANTS, AND MEASURES:Fem...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.114.2.e220
更新日期:2004-08-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to assess the relationship among the size of the lateral ventricles, head-circumference measure, and brain volumes. In addition, the association between ventricular dilatation and various brain lesions was defined. PATIENTS AND METHODS:A total of 257 preterm very low birth weight (...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2007-3264
更新日期:2009-02-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Thermoregulation is impaired during desynchronized sleep in animals and in adults. This can lead to a conflict between homeothermy and sleep in nonthermoneutral conditions. This study aimed to analyze thermoregulation during sleep, especially during desynchronized sleep (active sleep, AS) and t...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1994-05-01 00:00:00
abstract::The frequency and severity of 17 side effects presumably associated with stimulant medication were assessed during a rigorous, triple-blind, placebo-controlled, crossover evaluation of methylphenidate, 0.3 and 0.5 mg/kg twice a day, in 83 children with attention deficit hyperactivity disorder. Side effects were rated ...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1990-08-01 00:00:00
abstract:OBJECTIVE:School-based health services have evolved from primarily controlling communicable disease to comprehensive programs with direct services, education, and improvement of the school environment. School-based health clinics (SBHCs), currently 1157 in number, are used to reach children for preventive and other rou...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.105.4.780
更新日期:2000-04-01 00:00:00
abstract::The pediatric literature has documented a growing attention to defining the nature and quality of residency training. The critical incident technique, a method widely accepted in industrial settings, was used in this study to determine attitudes and behaviors deemed critical for successful performance of residents in ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1990-02-01 00:00:00
abstract::To gain at least an initial understanding of the underlying beliefs and attitudes in a cross-cultural situation, we believe that the three key points discussed in this paper should prove a significant point of departure: 1. Traditional beliefs about the cause of chronic illness or disability will play a significant ro...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1993-05-01 00:00:00
abstract::We report on 6 infants who underwent elective surgery and developed postoperative encephalopathy, which had features most consistent with intraoperative cerebral hypoperfusion. All infants were <48 weeks' postmenstrual age and underwent procedures lasting 120 to 185 minutes. Intraoperative records revealed that most o...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2012-0973
更新日期:2014-03-01 00:00:00
abstract::Tracking incidence or prevalence of diseases and using that information to target interventions is a well-established strategy for improving public health. The need to track environmentally mediated chronic diseases is increasingly recognized. Trends in childhood illnesses are 1 element of a framework for children's e...
journal_title:Pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:2004-04-01 00:00:00
abstract:BACKGROUND:This is the first peer-reviewed study to quantify diaper need, propose a method to measure diaper need, and explore psychosocial variables associated with diaper need in a large sample of urban, low-income families. METHODS:Data were derived from a cross-sectional study in 877 pregnant and parenting women. ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2013-0597
更新日期:2013-08-01 00:00:00
abstract::A 3.5-year-old healthy boy with 4 days of fever was referred to the emergency department for respiratory distress. The physical examination was remarkable for stupor, tachycardia, tachypnea, and dyspnea. Initial blood tests showed pancytopenia. He rapidly developed torticollis. Computerized tomography of the neck reve...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2004-2505
更新日期:2005-05-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to determine the effect of left-to-right shunting on the resting energy expenditure (REE), total energy expenditure (TEE), and energy intake in a group of 3- to 5-month-old infants with moderate to large unrepaired ventricular septal defects (VSDs) compared with age-matched, heal...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.102.5.1172
更新日期:1998-11-01 00:00:00
abstract::Fertility preservation in prepubertal and young adolescent girls scheduled for chemotherapy is a demanding situation. Despite the recent impressive improvements of ovarian cortex cryopreservation, significant limitations persist. The technique remains experimental, it exposes the girl to the risks of surgery and to an...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2016-0291
更新日期:2016-10-01 00:00:00
abstract::Young patients and their parents often are unsure about what represents normal menstrual patterns, and clinicians also may be unsure about normal ranges for menstrual cycle length and amount and duration of flow through adolescence. It is important to be able to educate young patients and their parents regarding what ...
journal_title:Pediatrics
pub_type: 杂志文章,评审
doi:10.1542/peds.2006-2481
更新日期:2006-11-01 00:00:00
abstract::Effects of phenylephrine hydrochloride on the degree of hypoxia were studied in six cyanotic patients with tetralogy of Fallot. Baseline aortic and right atrial oxygen saturations, blood gas tensions, pH, and indicator-dilution curves were obtained under stable conditions. Phenylephrine was infused while systemic arte...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1976-08-01 00:00:00
abstract:BACKGROUND:There has been an increase in the use of imaging modalities to diagnose appendicitis despite evidence that can help identify children at especially high or low risk of appendicitis who may not benefit. We hypothesized that the passive diffusion of a standardized care pathway (including diagnostic imaging rec...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章
doi:10.1542/peds.2015-4031
更新日期:2016-09-01 00:00:00
abstract::Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz sy...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2016-1281
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:Stroke is often a devastating complication of sickle cell disease (SCD). Most children with SCD-related stroke have stenotic and occlusive disease of cerebral blood vessels due to intimal hyperplasia. This hyperplasia is hypothesized to result from an inflammatory response similar to that in atherosclerosis ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.113.4.e318
更新日期:2004-04-01 00:00:00
abstract::The role of chloride deficiency in the generation of hypokalemic metabolic alkalosis with elevated plasma renin activity and plasma aldosterone levels, normal blood pressure, and a renal concentrating defect was studied in six infants given a soy formula that was deficient in chloride. A deceleration in linear growth,...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1981-03-01 00:00:00
abstract::Sudden infant death syndrome (SIDS) victims were regarded as normal as a matter of definition (Beckwith 1970) until 1952 when Kinney and colleagues argued for elimination of the clause, "unexpected by history." They argued that "not all SIDS victims were normal," and referred to their hypothesis that SIDS results from...
journal_title:Pediatrics
pub_type: 杂志文章,评审
doi:10.1542/peds.110.5.e64
更新日期:2002-11-01 00:00:00
abstract:OBJECTIVE:We followed a cohort (N = 306) of infants at well-baby visits in two suburban pediatric practices to assess the relation of exclusive breastfeeding, and other environmental exposures, to episodes of acute otitis media (AOM) and otitis media with effusion (OME). METHODS:Detailed prospective information about ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.100.4.e7
更新日期:1997-10-01 00:00:00
abstract::One controversy regarding childhood sexual abuse is whether the increased rate of reported cases reflects a true increase in prevalence. In this report, data obtained in the 1970s and 1980s were compared with those of the 1940s. Using predetermined criteria for quality of information, commonality of definitions of chi...
journal_title:Pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:1991-07-01 00:00:00
abstract:OBJECTIVES:To pilot-test a visual aid developed to help counsel pregnant women. METHODS:After agreeing to participate, pregnant women at >28 weeks of gestation were assigned randomly to counseling with or without a visual aid. The visual aid contained pictures, graphics, and short messages about delivery room resuscit...
journal_title:Pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1542/peds.2011-0597
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:The association of dietary fat distribution with markers of subclinical atherosclerosis during early life is unknown. We examined whether success in achieving the main target of an infancy-onset dietary intervention based on the distribution of dietary fat was associated with aortic and carotid intima-media ...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1542/peds.2019-2786
更新日期:2020-04-01 00:00:00
abstract::Echocardiographic evaluation of left ventricular (LV) performance was performed in 41 children during and following anthracycline chemotherapy. Prior to treatment LV function was normal in all patients; LV shortening fraction was 35.2 +/- 0.7% and percent of predicted velocity of circumferential fiber shortening was 1...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1981-07-01 00:00:00