Quality of life of parents and siblings of children with inflammatory bowel disease

BACKGROUND: Few investigators have reported on the quality of life of family members of children with inflammatory bowel disease. Psychological symptoms have been reported in parents and siblings, but the problems that which give rise to these symptoms are seldom examined. In this pilot study, some of the issues that affect the quality of life of parents and siblings of children with inflammatory bowel disease were examined. METHODS: Focus group meetings were held separately with 20 parents and 7 siblings of children with inflammatory bowel disease. The participants were encouraged to identify voluntarily problems related to the disease that affected their lives, and the discussions were tape recorded. Each participant subsequently wrote down the three most important concerns. RESULTS: Thirteen (65%) parents were very concerned about the effect of the disease on the child's future jobs, marriage, independence) and 11 (55%) were worried about problems the ill child was encountering at school. Other issues of most concern to parents included side effects of medication (n = 7), limited job prospects (n = 3), persistent feelings of guilt (n = 3), and restricted family lifestyle (n = 1 ). Most siblings (57%) were concerned about their parents' keeping information about the illness from them, and three (43%) of them were also concerned about others bullying the ill child at school. Other issues of concern to siblings included fear about the disease and treatment (n = 3), parents overprotecting the ill child, and feelings of jealousy (n = 1). CONCLUSION: Families of children with inflammatory bowel disease experience many problems that may affect their quality of life. Resources should be made available to help families with these concerns.     

Parents' descriptions of development and problems associated with infants with Turner syndrome: a retrospective study

OBJECTIVE: To describe parents' experiences of having an infant diagnosed with Turner syndrome and to determine whether receiving the diagnosis influenced the parents' perceptions of their child's development and/or problems during infancy. In addition, we set out to determine whether the late development of the infant and the perceived problems were related to genotype. METHODS: In this retrospective study, 54 parents (39 mothers and 15 fathers) from different families, each containing a girl with Turner syndrome, were interviewed in order to describe the development, feeding and overall well-being of their daughter during infancy (defined as being before the age of 2 years). RESULTS: Late development was reported to occur in the areas of motor activity (39%), fine motor control (59%), speech (37%) and language (37%). Feeding problems were frequent (74%) and screaming periods occurred in 41%. No differences were found between the responses of the parents whose children were diagnosed before 2 years of age and the responses of those whose children were diagnosed after 2 years of age. No differences were found concerning development and/or problems between the genotypes. CONCLUSIONS: Parents reported delayed development and problems to do with feeding and crying during infancy. These problems had an effect on their everyday life and that of their families, especially the problems relating to feeding. Parents reported that support and advice would have been of significant benefit in coping with the feeding difficulties. Parents were particularly concerned that the personnel at well-baby clinics should be more knowledgeable about the difficulties that can occur in families with an infant with Turner syndrome.     

Feeding difficulties and foregut dysmotility in Noonan's syndrome.

PURPOSE: Noonan's syndrome is a common dysmorphic syndrome in which failure to thrive and gastrointestinal symptoms are frequent but poorly understood. DESIGN: Twenty five children with Noonan's syndrome were investigated by contrast radiology, pH monitoring, surface electrogastrography (EGG), and antroduodenal manometry (ADM). RESULTS: Sixteen had poor feeding and symptoms of gastrointestinal dysfunction. All 16 required tube feeding. Seven of 25 had symptoms of foregut dysmotility and gastro-oesophageal reflux. In the most symptomatic children (four of seven) EGG showed fasting frequency gradient loss along the stomach fundus and pylorus with antral postprandial frequency loss. ADM showed shortened fasting cycle length, with abnormal phase III and shortened postprandial activity containing phasic contractions. IMPLICATIONS: Gastroduodenal motor activity was reminiscent of 32-35 week preterm patterns. The feeding difficulties appear to resolve as gut motility matures. In Noonan's syndrome, feeding problems appear to be the result of delayed gastrointestinal motor development.     

脑肌酸缺乏综合征Ⅰ型两家系临床特征及SLC6A8基因变异分析

该文报道2例由SLC6A8基因变异导致的脑肌酸缺乏综合征Ⅰ型（CCDS1）的临床及遗传学特征。2例患儿均为男性,年龄分别为2岁10个月、8岁11个月,主要表现为精神运动发育落后、抽搐。均有一哥哥出现类似症状,患儿1母亲轻度智力低下。经家系基因分析发现X染色体上SLC6A8基因分别存在c.200G > A（p.Gly67Asp）和c.626_627delCT（p.Pro209Argfs^*87）变异,变异均来自患儿母亲。这2个变异分别评级为可能致病性变异、致病性变异,既往未见文献报道。该研究拓展了SLC6A8基因突变谱,对精神运动发育落后、癫痫的男性患者的诊断具有重要意义。     

Maternal depressive symptoms at 2 to 4 months post partum and early parenting practices

OBJECTIVE: To determine whether maternal depressive symptoms, reported when infants are 2 to 4 months old, are associated with mothers' early parenting practices. DESIGN: Secondary data analyses collected from the National Evaluation of Healthy Steps for Young Children. Data sources included newborn enrollment questionnaires and parent interviews when infants were 2 to 4 months old. Maternal depressive symptoms were assessed using the Center for Epidemiological Studies Depression Scale. SETTING: Twenty-four pediatric practices across the United States. PARTICIPANTS: A total of 5565 families enrolled in Healthy Steps; 4874 mothers (88%) completed 2- to 4-month interviews and provided Center for Epidemiologic Studies Depression Scale data; 17.8% of mothers reported having depressive symptoms. MAIN OUTCOME MEASURES: Ten parenting practices assessed in 3 domains: safety (sleep position and lowering water temperature), feeding (cereal, water, or juice; continuing breastfeeding), and practices to promote child development (showing books, playing with infant, talking to infant, and following 2 or more routines). RESULTS: Mothers with and without depressive symptoms reported similar uses of safety and feeding practices. Mothers with depressive symptoms had reduced odds of continuing breastfeeding (adjusted odds ratio [AOR], 0.73; 95% confidence interval [CI], 0.61-0.88), showing books (AOR, 0.81; 95% CI, 0.68-0.97), playing with the infant (AOR, 0.70; 95% CI, 0.54-0.90), talking to the infant (AOR, 0.74; 95% CI, 0.63-0.86), and following routines (AOR, 0.61; 95% CI, 0.52-0.72). CONCLUSION: Maternal depressive symptoms are common in early infancy and contribute to unfavorable parenting practices.     

Craniopharyngioma in a female adolescent presenting with symptoms of anorexia nervosa

BACKGROUND: Tumours of the central nervous system mostly present with neurological symptoms and signs of intracranial hypertension. Several reports of cerebral tumors in adolescents outline initial symptoms of anorexia and emaciation, leading to the diagnosis of anorexia nervosa. PATIENT: We report on a 15.5-year-old girl with a craniopharyngioma. The girl had a 2 year history of weight loss, dystrophy, no onset of puberty, and a 6 year history of headache. These symptoms had led initially to the clinical diagnoses of migraine and anorexia nervosa, since unenhanced computed tomography of the brain was normal. At presentation, physical examination showed short stature (height SDS - 3.6) and Tanner stage I. Bone age delay was about four years. Laboratory analyses showed hypopituitarism. The diagnosis of craniopharyngioma was made by repeated imaging, depicting an intrasellar and parasellar mass, which was totally removed by neurosurgery. Hormonal substitution with hGH, L-thyroxine, hydrocortisone, and estrogens led to normal physiological development and final height within upper target height. CONCLUSIONS: The reported case illustrates that the diagnosis of craniopharyngioma is often delayed due to unspecific clinical symptoms. Careful evaluation of anthropometrics, ophthalmologic, and endocrine data in patients with suspected eating disorders may give additional clues to the diagnosis of a craniopharyngioma.     

Parents'reports of disturbed sleep in 5—7-year-old Swedish children

Parents’reports on 1844 five to seven year olds from the general population were used to provide a detailed update about prevalence and correlates of sleep disturbances in children. Five different sleep disturbances were focused on: difficulty falling asleep, reported in 5.6% of the children; night waking in 15.5%; snoring in 7.7%; nightmares in 3.1%, and bedwetting in 5.3% of the children. Coexisting sleep disturbances were frequent in children with difficulties falling asleep, night waking and nightmares, but bedwetting usually emerged as a singular sleep disturbance. Nightmares were associated with serious health problems or handicaps, sleep problems in conjunction with life events, and female gender. Snoring as well as bedwetting were associated with reports of “very active” children. In 6.7% of the total sample, parents had previously consulted the healthcare services for a sleep problem in their child. These children had reports of colic during infancy, eczema, serious health problems or handicaps, current snoring and current nightmares. Only 1.1% (n = 21) of the children were said to have a present need to remedy sleep problems. The reports on these children included coexisting sleep disturbances, previous consultations for sleeping problems, parents’perceptions of “very active” children, diagnoses of attention deficit hyperactivity disorder, and major life events which had triggered sleep problems. In conclusion, although sleep disturbances are common in 5—7-y-old children, parents seldom express a need to remedy sleep problems in their children of this age. □ Children, parents, sleep behaviour, sleep disturbances, survey     

Medical assessment of adolescent girls with eating disorders: an evaluation of symptoms and signs of starvation

AIM: To investigate the prevalence of symptoms and signs related to starvation at the initial examination of adolescent girls with eating disorders (ED). METHODS: Two hundred and eleven girls with eating disorders recruited for a multicentre research and evaluation programme of six specialist eating disorder services in Sweden have been studied. The presence or absence of 12 symptoms, reported by the patients, and 16 signs, observed by the examiners, were registered and related to body weight. RESULTS: Eleven observed signs--loss of subcutaneous fat, loss of muscle mass, loss of muscular force, dry and scaly skin, brittle nails, dry and brittle hair, lanugo hair, resting pulse <60, systolic blood pressure <110, peripheral hypothermia, and peripheral cyanosis--were related to body weight expressed in standard deviation scores (SDS). When the number of observed signs for each patient was calculated, there was a strong relationship with weight. The odds ratio for having more than two signs was 4.35 (95% CI 2.67-7.04; p = 2.8 x 10(-9) for every one-unit change in weight SDS. Of the symptoms reported by the patients, only three were related to weight. When the number of reported symptoms for each patient was calculated, a relationship with weight was not observed. CONCLUSION: In adolescent girls with ED, physical signs observed at medical examination can be related to weight. However, reported symptoms are poorly related to weight and may be influenced by other factors. The finding emphasizes the importance of medical assessment at presentation of patients with ED.     

The developmental association between eating disorders symptoms and symptoms of depression and anxiety in juvenile twin girls

OBJECTIVE: We investigated the role of genetic and environmental factors in the developmental association among symptoms of eating disorders, depression, and anxiety syndromes in 8-13-year-old and 14-17-year-old twin girls. METHODS: Multivariate genetic models were fitted to child-reported longitudinal symptom data gathered from clinical interview on 408 MZ and 198 DZ female twin pairs from the Virginia Twin Study of Adolescent Behavioural Development (VTSABD). RESULTS: Model-fitting revealed distinct etiological patterns underlying the association among symptoms of eating disorders, depression, overanxious disorder (OAD), and separation anxiety disorder (SAD) during the course of development: 1) a common genetic factor influencing liability to all symptoms - of early and later OAD, depression, SAD, and eating symptoms; 2) a distinct genetic factor specifically indexing liability to early eating disorders symptoms; 3) a shared environmental factor specifically influencing early depression and early eating disorders symptoms; and 4) a common environmental factor affecting liability to symptoms of later eating disorders and both early and later separation anxiety. CONCLUSIONS: These results suggest a pervasive genetic effect that influences liability to symptoms of over-anxiety, separation anxiety, depression, and eating disorder throughout development, a shared environmental influence on later adolescent eating problems and persistent separation anxiety, genetic influences specific to early eating disorders symptoms, and a shared environmental factor influencing symptoms of early eating and depression.     

Popular perceptions about childhood diarrheas: diversity and unity]

Sickness is defined by culture: each society has its own way of labelling, explaining and treating symptoms. In the case of childhood diarrhea, each population selects some signs and considers them as symptoms, defines a limit between normal and pathologic, arranges symptoms in order to build syndromes that make up a local nosology. Examples from Thailand, China, Algeria, Nicaragua and Burkina Faso show the diversity of popular beliefs about diarrhea. These beliefs depend upon the epidemiological context, but they do not reflect it exactly: thus in Burkina Faso, AIDS has not been integrated in popular beliefs about childhood diarrhea. The examples discussed in this article show how popular beliefs evolve, especially under the influence of biomedicine. Moreover, every individual understands differently the popular nosology according to his (or her) social status and to the level of his (her) knowledge. To the unity of biomedical knowledge responds a great diversity of popular beliefs. In France, contemporary popular beliefs about childhood diarrhea have been seldom studied by social sciences. They seem to be close to biomedical knowledge and share some essential elements with it, but they also show some features--such as the belief that diarrhea is benign when simultaneous to teething--that relate them to popular beliefs which have been described in other cultures. By describing and analysing these popular beliefs, medical anthropology makes it possible to adapt medicine to local knowledges.     

Understanding of conservation of substance in youngsters with cerebral palsy

Consistent research reports in the literature have shown that youngsters born with a severe physical handicap are delayed in cognitive functions that are based upon spatial concepts. The purpose of this study was to determine whether youngsters born with cerebral palsy are delayed in their understanding of a nonspatial task. The task chosen was conservation of substance, designed by Piaget to determine if the child understands that a mass will remain the same after its physical appearance has been altered. The sample consisted of 30 nonambulatory youngsters with cerebral palsy and 30 nonhandicapped youngsters. Half were boys; half girls; equal numbers were in three age groups of 4 to 5 years, 7 to 8 years, and 10 to 11 years. Statistical analysis showed youngsters with cerebral palsy were not delayed in their understanding of conservation of substance. These results indicated that the children's physical handicap did not interfere with their cognitive development of a nonspatial concept. These results have implications for therapists treating children with severe physical handicaps.     

Early child health in Lahore, Pakistan: XII. Milestones

Psychomotor development was assessed in 1476 infants from four different levels of urbanization in and around Lahore, Pakistan. Development was assessed monthly at birth to 24 months of age by using a set of 10 milestones selected from the Denver Developmental Screening Test and the Developmental Screening Inventory. The psychomotor development of children in the upper middle (Um) class was consistent with reference population groups in Europe and North America, hence this group was used as control. There was significant delay in the psychomotor development of infants belonging to the poorer areas compared to the Um class. There was no sex difference in the development of the milestones in any study area, except for girls in the Um class who were earlier for about one month than boys in talking. Infants in the poorer areas were, on average about 3 months, delayed in their walking and fine motor activity (building a tower of 3 cubes) in comparison with the Um class. Observed disturbance in psychomotor development at an early age may affect the abilities and achievements in later life.     

舌尖音发音缺陷的临床特征和语音治疗

目的回顾性分析62例舌尖音发音缺陷患儿的临床资料,为此类发音缺陷疾病的评估和治疗提供参考。方法对62例3．0～8．0岁舌尖音发音缺陷儿童,采用图片词汇测试评估其语言理解能力;采用发育或智能测试评估其非言语智商（发育商）和认知发育水平;采用普通话语音测试评估其语音状况。给予患儿语音治疗,每周1～2次,每次约60min。治疗时,根据发育进程确立目标语音,采用语音定位法让儿童对正确的发音部位和方式有清晰的认识。对存在口腔运动功能障碍的儿童,改变食物的质地并分别给予口腔功能训练。结果按发音部位分类,舌尖音发音缺陷分为四种类别,以混合性发音异常最为常见,共40例（64．5％）;其他依次为舌尖中音异常15例（24．2％）;舌尖后音4例（6．5％）和舌尖前音3例（4．8％）。发音错误形式分为三类,舌后音化59例（95．2％）;省略音化19例（30．6％）;不送气音化8例（12．9％）。临床上部分患儿存在口腔运动功能障碍;部分患儿存在进食问题,如食物偏软、常含在口中、进食慢、咀嚼不充分。经5～18次治疗,82．3％患儿有显著疗效。结论舌尖音发音缺陷分为四种表型,以混合性发音异常最为常见。发音错误形式分为三类,以舌后音化最多见。治疗宜采用语音定位法让儿童认识正确的发音部位和方式。对存在进食问题和口腔运动功能障碍的儿童,需改变食物的质地并进行必要的口腔功能训练。     

The triad of pneumonitis,pleuritis, and pericarditis in juvenile rheumatoid arthritis

There are few reports of pleuroparenchymal and pericardial involvement secondary to juvenile rheumatoid arthritis (JRA) in the literature. This article presents two such cases and gathers scattered information about this combination previously reported by few others. We wish to emphasize that the combination of pericardial and pleuropulmonary involvement in a youngster may be the only presenting clinical manifestations of rheumatoid arthritis, whereas in others, it may be associated with arthritic symptoms at the same time.     

The presenting features of brain tumours: a review of 200 cases.

OBJECTIVE: To determine the presenting features of brain tumours in children. DESIGN: Retrospective case note review. SETTING: Paediatric and neurosurgical services at the Wessex Neurology Centre and Southampton General Hospital, UK. Patients: 200 patients presenting with a CNS tumour between 1988 and 2001. RESULTS: The commonest first presenting symptoms were headache (41%), vomiting (12%), unsteadiness (11%), visual difficulties (10%), educational or behavioural problems (10%), and seizures (9%). The commonest symptoms occurring at any time were headache (56%), vomiting (51%), educational or behavioural problems (44%), unsteadiness (40%), and visual difficulties (38%). Neurological signs were present at diagnosis in 88%: 38% had papilloedema, 49% cranial nerve abnormalities, 48% cerebellar signs, 27% long tract signs, 11% somatosensory abnormalities, and 12% a reduced level of consciousness. The median symptom interval was 2.5 months (range 1 day to 120 months). A short symptom interval was significantly associated with high grade tumours and patient age of 3 years or younger. CONCLUSIONS: The well known predominance of headache in children with CNS tumours is confirmed. Visual, behavioural, and educational symptoms were also prominent. With the exception of seizures, every initial symptom was accompanied by other symptoms or signs by the time of diagnosis. Questions about visual symptoms and educational or behavioural difficulties, as well as the more widely recognised symptoms of raised intracranial pressure and motor dysfunction, are important in the diagnosis of brain tumours, as are vision assessment and the appropriate plotting of growth and head size.     

Delayed or forgone care among children with special health care needs: an analysis of the 2001 National Survey of Children with Special Health Care Needs.

OBJECTIVE: To examine the associations of sociodemographic characteristics with both the prevalence and the causes of delayed or forgone care in a nationally representative sample of children with special health care needs. METHODS: Data were abstracted from the 2001 National Survey of Children with Special Health Care Needs. The families of children with special health care needs (CSHCN) who reported delayed or forgone care were asked about the reasons. The 12 reasons in the questionnaire were grouped into 5 categories. Bivariate and multivariate logistic regression analyses were conducted in SUDAAN to examine the relationship between sociodemographic characteristics of CSHCN and the incidence of delayed or forgone care by its reasons. RESULTS: Nearly 10% of CSHCN had experienced delayed or forgone health care in the past 12 months in 2001. Logistic regression showed that delayed or forgone care was more likely to be reported by the families of CSHCN who were adolescents, who had more severe limitations, lived in the South or West, lacked medical insurance, and who lived in families under or near the federal poverty line. Hispanics were more likely to report "lack of medical specialty" and "had language, communication, or cultural problems with provider." Both Hispanics and non-Hispanic others were twice as likely to report "provider not accessible" as reasons for the delayed or forgone care compared with non-Hispanic whites or blacks. conclusion: CSHCN with certain socioeconomic status and sociodemographic characteristics, as well as those with severe limitations in activity, were more likely to be affected by circumstances that result in delayed or forgone care.     

Parental perceptions of well-child care visits in an inner-city clinic.

OBJECTIVES: To assess parental perceptions of the importance of well-child care (WCC) in an inner-city clinic and to determine what type and format of information parents would like to obtain at WCC visits. METHODS: A convenience sample of parents accompanying a child aged 12 years or younger attending an inner-city pediatric teaching clinic completed self-administered written surveys. Parents ranked the importance of WCC overall, as well as its various components, using Likert scales. Parents also responded to checklist-style questions to indicate selected topics they would like to receive more information about and the format of information they preferred (written, talking to the physician, or videotapes in the waiting room). RESULTS: A total of 239 parents completed surveys. Overall they believed WCC was important (91% responded "extremely important" or "very important"). The individual WCC components ranked most important by parents were immunizations, growth and development issues, and the opportunity to discuss behavior or other concerns. The topics of information requested most frequently were how to help their child learn healthy eating habits (55%), how to help their child do well in school (53%), and how to keep their child safe outside of their home (49%). Written information was the format most frequently preferred (65%) by parents for receiving information. CONCLUSIONS: Parents of inner-city children consider WCC important. They want to hear about child health-related issues and prefer a written format. This knowledge can guide health care providers and educators during WCC visits and while teaching.     

Neurological investigation of 5-year-old children with low birthweight.

139 children with a low birthweight (LBW), i.e. not more than 2 500 g, were examined at 5 years of age in respect of their neurological status, with special reference to motor coordination according to Touwen & Prechtl. 5 (3.6%) children had cerebral palsy; 13 (9.4%), minimal brain dysfunction; 38 (27.3%), delayed motor maturation; and 83 (59.7%), normal motor development and normal neurological status. Impairment of hearing and of vision, epilepsy and mental retardation were more common in children with cerebral palsy and MBD. Children with MBD and delayed motor maturation had a lower IQ, as judged from the draw-a-mantest according to Goodenough than children with normal neurological status. Cerebral palsy was found in children with a very low birthweight and short gestational age. Other findings were equally distributed among groups classified by weight and duuration of gestation.     

Nutritional dwarfing: is it a consequence of disturbed psychosocial functioning?

Nutritional dwarfing refers to a condition in which maladaptive eating patterns play a primary role in poor linear growth and delayed pubertal development. The present controlled study assesses whether nutritionally dwarfed children and adolescents differ in their psychosocial adjustment from healthy children and adolescents of comparable height in ways that might account for their undernutrition. Children with nutritional dwarfing (n = 16) were compared by standardized questionnaires with a short-stature (ie, heights below the fifth percentile) control group composed of children and adolescents with constitutional growth delay and/or familial short stature (n = 31). Scores on a self-report screening questionnaire for eating disorders did not differentiate the groups. Moreover, the vast majority of nutritionally dwarfed patients expressed a desire to have a heavier physical appearance. Whereas the groups were generally similar in self-perceptions of domain-specific competencies and positive psychosocial adjustment, the parents of nutritionally dwarfed children reported that their children showed significantly fewer externalized behavior problems. These findings suggest the existence of an eating disturbance that compromises growth in childhood and/or adolescence which, unlike anorexia nervosa, is not associated with evidence of psychopathology.     

Understanding of Conservation of Substance in Youngsters with Cerebral Palsy

Consistent research reports in the literature have shown that youngsters born with a severe physical handicap are delayed in cognitive functions that are based upon spatial concepts. The purpose of this study was to determine whether youngsters born with cerebral palsy are delayed in their understanding of a nonspatial task. The task chosen was conservation of substance, designed by Piaget to determine if the child understands that a mass will remian the same after its physical appearance has been altered. The sample consisted of 30 nonambulatory youngsters with cerebral palsy and 30 nonhandicapped youngsters. Half were boys; half girls; equal numbers were in three age groups of 4 to 5 years, 7 to 8 years, and 10 to 11 years. Statistical analysis showed youngsters with cerebral palsy were not delayed in their understanding of conservation of substance. These results indicated that the children's physical handicap did not interfere with their cognitive development of a nonspatial concept. These results have implications for therapists treating children with severe physical handicaps.