Psychopathology and familial stress - comparison of boys with Fragile X syndrome and spinal muscular atrophy

BACKGROUND: Chronic illness and mental retardation are both associated with an increased rate of behavioural problems in children and with considerable emotional strain in families. The aim of the study was to analyse and compare the specific effects of two exemplary conditions on familial stress and coping. METHODS: Forty-nine boys with Fragile X syndrome (FXS) were compared with 46 boys with Spinal Muscular Atrophy (SMA) and 32 male controls. Intelligence was measured with the RAVEN or K-ABC tests. Psychopathology was assessed with the CBCL questionnaire and a structured psychiatric interview (Kinder-DIPS), parental stress with the QRS, coping with the F-COPES and social support with the F-SOZU questionnaires. RESULTS: The mean age of the FXS boys was 8.6, of the SMA boys 12.7 and of the controls 11.2 years. The mean IQ was 47 for the FXS, 112 for the SMA and 103 for the control groups. According to the CBCL, 89.8% of the FXS boys, 21.7% of the SMA and 15.7% of the controls had a total score in the borderline or clinical range. The rates were 63.3%, 34.8% and 21.9% for internalising and 67.3%, 10.9% and 18.8% for externalising behaviour, respectively. 81.6% of the FXS and 10.9% of the SMA patients had a DSM-IV or ICD-10 psychiatric diagnosis. The most common were ADHD (FXS: 36) and Separation Anxiety Disorder (SMA: 4). In total, parental stress was significantly higher in the FXS than in the SMA families (and in both compared to controls). There were no major inter-group differences regarding social support and familial coping. CONCLUSIONS: Children with FXS are severely mentally retarded and have a high rate of mainly externalising disorders. Despite good coping abilities and social support, this is associated with high familial stress. The SMA boys, with an intelligence in the upper normal range, are no more deviant than their healthy controls. Parental stress is lower in the SMA families with good coping abilities. In conclusion, families with mentally retarded children are in even greater need of help than those of children with severe chronic illness/physical handicap.     

Gastrointestinal motility and sensory abnormalities may contribute to food refusal in medically fragile toddlers

BACKGROUND: In chronically ill children who refuse to eat, surgery to correct anatomic problems and behavioral treatments to overcome oral aversion often succeed. A few patients fail with standard treatments. The aims of the study were to: 1) investigate motility and gastric sensory abnormalities and 2) describe treatment that was individualized based on pathophysiology in children who failed surgery and behavioral treatments. METHODS: We studied 14 patients (age 1.5-6; mean 2.5; M/F: 7/7). All had a lifelong history of food aversion and retching or vomiting persisting after feeding therapy and fundoplication. All were fed through gastrostomy or gastro-jejunostomy tubes. We studied esophageal and antroduodenal manometry, and gastric volume threshold for retching. We identified when gastric antral contractions were associated with retching and pain. A multidisciplinary treatment program included a variable combination of continuous post-pyloric feedings, drugs to decrease visceral pain, drugs for motility disorders, and behavioral, cognitive, and family therapy. We interviewed parents 2-6 months following testing to evaluate symptoms, mode of feeding and emotional health. RESULTS: We found a motility disorder alone in 2, decreased threshold for retching alone in 5 and both motility and sensory abnormalities in 7. After treatment, 6 of 14 (43%) began eating orally and 80% had improved emotional health. Retching decreased from 15 episodes per day to an average of 1.4 per day (p <0.01). CONCLUSIONS: Upper gastrointestinal motor and/or sensory disorders contributed to reduced quality of life for a majority of children and families with persistent feeding problems. A multidisciplinary approach improved symptoms and problems in these children     

Prevalence and pattern of childhood abdominal pain in an Australian general practice

OBJECTIVE: Abdominal pain is a common problem in childhood and accounts for a significant workload in general practice. The aim of this study was assess the nature of abdominal pain in a sample of Australian children attending a Western Australian general practice for any reason, and to determine factors associated with the reporting of such pain. METHODOLOGY: A prospective study of children and their families attending a rural general practice was undertaken using a parental survey to assess the frequency and nature of abdominal pain, demographic features, physical and behavioural characteristics. RESULTS: Abdominal pain was common in this population; 44% (70 of 164) of parents reported that the index child had experienced abdominal pain in the past 12 months. The average age of children who experienced recent abdominal pain was 9 years and 9 months. Multivariate analysis suggested that children experiencing abdominal pain in the preceding 12 months were more likely to be anxious (odds ratio (OR) = 3.74, P = 0.01), to have a family history of similar problems in siblings (OR = 4.26, P = 0.01) and to experience sleep disturbance (OR = 3.90, P = 0.02) than children without abdominal pain. Consumption of three or more serves of wholemeal bread or cereals per day had a significant protective effect on reported abdominal pain in children (OR = 0.12, P = 0.03). The majority of families (66%) dealt with the pain without resorting to medical care. CONCLUSIONS: Abdominal pain remains a common problem of children attending an Australian general practice, and was associated with features suggesting that it is related to anxiety and coping ability. Abdominal pain is not usually associated with disease; most families recognize this and cope with abdominal pain without medical consultation.     

Fragile X syndrome: an overview of cause,characteristics, assessment and management

Fragile X syndrome (FXS) is the most common identifiable cause of inherited intellectual disability and autism spectrum conditions, and is associated with a range of physical, cognitive and behavioural characteristics. Alongside intellectual disability, heightened rates of autism spectrum disorder, anxiety disorders, attention-deficit-hyperactivity disorder, self-injury and aggression are reported. Timely identification of FXS as well as assessments of common co-morbid psychological conditions and underlying health problems are essential to ensure individuals with FXS receive appropriate support. This article provides an overview for clinicians of current literature on the cause of FXS as well as the key physical, cognitive, and behavioural characteristics with a focus on children and adolescents.     

The impact of early powered mobility on parental stress, negative emotions, and family social interactions

Powered mobility has been found to have positive effects on young children with severe physical disabilities, but the impact on the family has been less well documented. We evaluated the impact of early powered mobility on parental stress, negative emotions, perceived social interactions, and parental satisfaction with wheelchair characteristics such as size and durability. The participants were parents of 23 children with disabilities-10 with orthopedic disabilities (average age 30.1 months) and 13 with cerebral palsy (average age 47.0 months). Pretest assessments were completed two times: at initial wheelchair evaluation and at wheelchair delivery. A posttest assessment was completed after each child had used the wheelchair for 4-6 months. Parents reported a lower perceived level of stress at the time of wheelchair delivery, although the magnitude of this effect was fairly small, standardized mean difference (δ) = .27. They also reported an increased satisfaction with their child's social and play skills (δ = .38), ability to go where desired (δ = .86), sleep/wake pattern (δ = .61), and belief that the general public accepts their child (δ = .39) after several months using the wheelchair. Parents reported an increase in interactions within the family at the time of wheelchair delivery (δ = .66). There was no decrease in negative emotions. Parents were satisfied with most factors relating to the wheelchair itself, with areas of concern being wheelchair size and difficulty adjusting the wheelchair. The findings suggest that self-initiated powered mobility for a young child had a positive impact on the family.     

Early acceleration of head circumference in children with fragile x syndrome and autism

OBJECTIVE: Head circumference (HC) growth has been shown in several studies to be accelerated early in life in both fragile X syndrome (FXS) and autism spectrum disorders (ASDs), but the rates of growth have not been compared between those with only FXS and those with FXS and ASD (FXS + ASD). METHODS: We hypothesized that individuals with FXS + ASD would have significantly larger HCs from individuals with only FXS and that there would be an early acceleration of HC in both the FXS-only and FXS + ASD groups. HC measurements were available retrospectively for 44 males, five and younger, with FXS, of whom 22 also had ASD. Measurements over time were available for 24 of the 44 children. HC percentiles were compared between the groups in two ways: by focusing on cross-sectional subsamples and by fitting hierarchical linear models to the full sample. RESULTS: Neither group differed significantly from the norm in the first year of life (p > 0.2). At 30 months, the FXS + ASD group was 27 percentile points above the norm (p = .0125), whereas the FXS-only group did not differ from the norm. At 60 months, the FXS-only group was 21 percentile points above the norm (p = .029), whereas the FXS + ASD group did not differ from the norm. CONCLUSION: The group difference in HC growth rate may differentiate brain development in individuals with FXS-only versus those with FXS + ASD.     

Children with physical disability: gaps in service provision, problems joining in

Aim:   To describe the reported experiences of the estimated 14 500 New Zealand children with a physical disability and those of their families and whanau (extended families).
Method:   We have used data from the Household Disability Survey conducted in 2002 to obtain this information.
Results:   These children and their carers reported a number of perceived unmet needs in all areas covered in the survey: service and assistance, transport, accommodation and education. Thus an estimated 24% reported an unmet need for equipment, and 10% an unmet need for home modification. Around 9% reported having to fund respite care themselves. Of particular note was the proportion of children who had difficulties joining in games and sport at school (59%), going on school outings or camps (28%), playing at school (47%), and or making friends (35%). In all, an estimated 67% of children had one or more problems taking part at school.
Conclusion:   More could be done to help such families and to facilitate the full participation of these children.     

Social behavior and cortisol reactivity in children with fragile X syndrome

OBJECTIVE: To examine the association between limbic-hypothalamic-pituitary-adrenal (L-HPA) axis reactivity and social behavior in children with fragile X syndrome (FXS). METHOD: Salivary cortisol changes and concurrent anxiety-related behaviors consistent with the behavioral phenotype of FXS were measured in 90 children with the fragile X full mutation and their 90 unaffected siblings during a social challenge task in the home. RESULTS: Boys and girls with FXS demonstrated more gaze aversion, task avoidance, behavioral signs of distress, and poorer vocal quality than the unaffected siblings. Multiple regression analyses showed that after accounting for effects of IQ, gender, age, quality of the home environment, and basal cortisol level, cortisol reactivity to the task was significantly associated with social gaze in children with FXS. The most gaze-aversive children with FXS had cortisol reductions, whereas those with more eye contact demonstrated the most cortisol reactivity. Unaffected siblings demonstrated an opposite pattern in which less eye contact was associated with increased cortisol reactivity. CONCLUSIONS: Results of the study suggest a unique relation between abnormal gaze behavior and L-HPA mediated stress reactivity in FXS.     

孤独症谱系障碍儿童的诊断年龄及其影响因素

目的 研究孤独症谱系障碍（ASD）儿童的诊断年龄,探讨ASD诊断年龄的影响因素。方法 收集2011年2月至2017年7月于重庆医科大学附属儿童医院首次就诊后确诊为ASD的1691例儿童的临床资料。应用多元线性回归模型分析影响ASD诊断年龄的相关因素。结果 ASD诊断年龄平均为35±17个月（范围9~175个月）,其中24~35个月获得确诊者占比最高（46.13%,780/1 691）,其次为≥ 36个月（33.41%,565/1 691）。多元线性回归分析显示,有语言障碍、居住在主城区、父母学历高的ASD儿童诊断年龄较早（P < 0.05）。结论 儿童ASD的诊断年龄多在24~35个月。ASD诊断年龄与个体主要症状、居住地区和父母文化程度有关。     

Early adolescent outcomes for institutionally-deprived and non-deprived adoptees. I: disinhibited attachment

BACKGROUND: Disinhibited attachment is an important sequel of an institutional rearing, but questions remain regarding its measurement, its persistence, the specificity of the association with institutional rearing and on whether or not it constitutes a meaningful disorder. METHOD: Children initially reared in profoundly depriving institutions in Romania and subsequently adopted into UK families were compared with respect to findings at 11 years with children who had not experienced institutional deprivation and who had been adopted within the UK before the age of 6 months. Measures included parental reports, a Strange Situation procedure modified for use in the home and systematic standardised investigator ratings of the children's behaviour. RESULTS: Disinhibited attachment, as reported by parents, showed a high degree of persistence from 6 to 11, but also a reduction over time in its frequency. Investigator ratings validated the parental reports but suggested that much of the fall in rate of disinhibited attachment was a function of the parental measure being less developmentally appropriate at 11 than it had been at 6. Disinhibited attachment was strongly associated with institutional rearing but there was not a significant increase in relation to duration of institutional deprivation beyond the age of 6 months. Mild, but not marked, disinhibited attachment was quite frequent in non-institutionalised adopted children but both the course and correlates indicated that its meaning was probably quite different. In the institution-reared children, disinhibited attachment was associated with a marked increase in service usage and associations with other forms of psychopathology. CONCLUSIONS: Disinhibited attachment constitutes a valid, and handicapping, clinical pattern that is strongly associated with an institutional rearing.     

Family interaction and a supportive social network as salutogenic factors in childhood atopic illness

The role of psycho‐social factors in the development of allergy was studied prospectively in 82 infants with a family history of atopy. The family participated in a standardized family test when the children were 18 months old. The ability to adjust to demands of the situation (‘adaptability’), and the balance between emotional closeness and distance (‘cohesion’), were assessed from videotapes by independent raters. Families rated as functional in both of these aspects were classified as ‘functional’, otherwise as ‘dysfunctional’. The social network, life events, atopic symptoms (based on postal inquiries regarding symptoms answered by the parents, and on physical examinations), psychiatric symptoms, and socio‐economic circumstances of the families were evaluated when the children were 18 months and 3 years of age. The children were classified as atopic (asthmatic symptoms or eczema) or as non‐atopic. All but two children with atopic disease at 3 years of age had atopic disease before 18 months of age, while 32 of 60 children with atopic disease at 18 months of age had no problems by 3 years of age. An unbalanced family interplay at 18 months was associated with a relative risk (RR) of 1.99 for continuing atopic illness at 3 years of age (1.18 < RR < 3.37, p = 0.01). There was a weak positive confounding effect for smoking (RR reduced by 7%), eczema on three or more localizations (RR reduced by 4.5%), and the amount of cat allergen in household dust (RR reduced by 3%). Recovery from atopic illness between 18 months and 3 years of age was four times as probable in families with functional interaction and a good social supportive network when children were 18 months of age, than in dysfunctional families with a poor social network (74% versus 20% p < 0.01). Children with asthmatic symptoms showed more signs of emotional distress than did healthy children (p = 0.02). Dysfunctional family interaction patterns were more commonly observed in families of children who at 3 years of age still had atopic symptoms, than in children who had recovered. The patterns included expression of emotion and reaction to the needs of others, alternating between total disinterest and over‐involvement (p = 0.02), lack of support and rejection of offered support (p = 0.01), a greater number of individual decisions without regard to the other family members (p = 0.04), and indistinct ‘generational boundaries’ (p = 0.04). We conclude that psychosocial factors, such as family interaction and a supportive social network, play a significant role in the course of atopic illness in early childhood and that measures which enhance family interaction and the social network could influence the course of the disease favorably.     

Outcome of liver disease associated with alpha 1 antitrypsin deficiency (PiZ). Implications for genetic counselling and antenatal diagnosis.

We reviewed the hepatic features in 136 children with alpha 1 antitrypsin deficiency (PiZ). Eighty two were studied prospectively, 74 of whom had chronic liver disease. Sixty seven children with liver disease presented in the first four months of life, four were older infants and children with chronic liver disease, 10 (three with liver disease) were identified in studies of the family of these propositi, and one was identified when she had liver disease associated with infectious mononucleosis. By 17 years of age 20 of these 74 children with chronic liver disease had died, 20 had established cirrhosis, 19 had persisting liver disease, and only 15 had made a complete, clinical and biochemical recovery. The outcome of liver disease was similar in a further 39 previously unreported PiZ infants and children with liver disease who were not prospectively studied. Because liver disease affects only a proportion of infants with PiZ phenotype and because the severity of their liver disease is so variable, we have analysed the outcome of liver disease in 27 observed families and in 20 previously reported families with more than one child with PiZ. In 34 families the outcome of liver disease was similar in the two children. From an analysis of the families with a severely affected child, we conclude that if the first PiZ child of PiZ heterozygote parents has unresolved liver disease, there is a 78% chance that a second PiZ child will have similar liver disease. After careful counselling, fetoscopy, fetal blood sampling, and protease inhibitor phenotyping, possible termination of pregnancy should be carefully considered in these families.     

Reimmunization of children immunized at 18 months of age with Haemophilus influenzae type b vaccine

We studied the response to reimmunization at 36 months of age with Haemophilus influenzae type b (Hib) polyribosylribitol phosphate (PRP) capsular polysaccharide vaccine. Children enrolled in the study had previously received PRP or PRP plus diphtheria and tetanus toxoids with pertussis vaccine at 18 months of age. A control group of children, who received a first dose at 36 months of age, was also studied. Ninety-five percent of children receiving a second dose of vaccine had a postimmunization anti-capsular antibody level of greater than or equal to 1 microgram/mL. In comparison, 70% of 36-month-old children who received their first dose of PRP had a postimmunization level greater than or equal to 1 microgram/mL (P = 0.09). The geometric mean titer at 37 months of age was 8.64 micrograms/mL in children who had received two doses of PRP vaccine, compared with 2.19 micrograms/mL in the group who received only one dose of PRP at 36 months of age (P = 0.04). We conclude that infants immunized at 17 to 19 months of age with PRP had an excellent immunologic response to reimmunization at 36 months of age.     

The Prader-Willi phenotype of fragile X syndrome

The Prader-Willi phenotype (PWP) of fragile X syndrome (FXS) is associated with obesity and hyperphagia similar to Prader-Willi syndrome (PWS), but without cytogenetic or methylation abnormalities at 15q11-13. Thirteen cases of PWP and FXS are reported here that were identified by obesity and hyperphagia. Delayed puberty was seen in 5 of 9 cases who had entered puberty, a small penis or testicles in seven of 13 cases, and infant hypotonia and/or a poor suck in seven of 13 cases. Autism spectrum disorder occurred in 10 of 13 cases, and autism was diagnosed in seven of 13 cases. We investigated cytoplasmic interacting FMR1 protein (CYFIP) expression, which is a protein that interacts with FMR1 protein (FMRP) because the gene for CYFIP is located at 15q11-13. CYFIP mRNA levels were significantly reduced in our patients with the PWP and FXS compared to individuals without FXS (p < .001) and also individuals with FXS without PWP (p = .03).     

Tracheomalacia and bronchomalacia in 34 children: clinical and radiologic profiles and associations with other diseases

We reviewed our experience on tracheomalacia (TM) and bronchomalacia (BM) in children who presented with chronic respiratory problems and evaluated their clinical and radiologic characteristics and their associations with other disorders. There were 26 males and 8 females with a median age of 9 months. The main symptoms were wheezing, persistent or recurrent pneumonia, and chronic cough. Atelectasis on chest radiograph was the most common sign. Of 23 children with TM, 1 had a double aortic arch, 1 had tracheoesophageal fistula, and 1 other had associated laryngomalacia. BM was found in 27 children and was predominantly seen on the right side. TBM was found in 16 cases (in an infant TBM was accompanied by pharyngeal dyskinesia and in another by laryngomalacia). Malacia disorders were associated with gastroesophageal reflux, cardiovascular anomalies, and tracheoeosophageal fistula. TM and BM should be considered in the differential diagnosis of children with chronic and recurrent respiratory symptoms. Early diagnosis of malacia disorders will prevent unnecessary use of antibiotics or antiasthmatic drugs, which are often abused to treat these children. In these patients, treatment for associated diseases should also be considered.     

THE INFLUENCE OF FAMILY TYPE ON CHILDREN''S BEHAVIOUR AND DEVELOPMENT AT FIVE YEARS

Development and behaviour at five years were assessed in children from a national cohort; comparisons were drawn between those living in one-parent families, in step-parent families and with both natural parents. On average, children from one-parent families scored worst and children from two-parent families best on tests of behaviour, vocabulary and visuomotor co-ordination. The differences remained significant after allowing for associated influences. The behaviour of children from one-parent families and step-parent families was perceived on average as more 'anti-social' than that of children from two-parent families. Children in one-parent families were seen on average as marginally more 'neurotic' than children in two-parent families.     

Primary results of antiretroviral treatment among HIV/AIDS infected children in Lomé (Togo)]

Since 2004 in Togo HIV/AIDS infected children have, free of charge, access to antiretroviral drugs according to the national program. The aim of this study was to investigate the clinical, biological and prognosis aspects of anti-retroviral treatment on HIV/AIDS infected children. PATIENTS AND METHOD: We conducted a cross sectional study on 72 HIV/AIDS infected children with anti-retroviral treatment, under the supervision of clinicians within 3 associations specialized in the management of subjects infected by HIV/SIDA at Lomé (Togo). RESULTS: The average age of children was 6 years 9 months. The middle age to HIV screening was 4 years 2 months. The sex ratio was 1.05. The majority of these children (79.2%) were orphans of at least 1 of their parents. All the children were stemmed from families with modest income. The transmission mother to child was the way of HIV contamination found among all the children. To a certain extent, all the children were infected by the HIV 1. Most of the children (66.7%) receiving an antiretroviral treatment for at least 6 months were asymptomatic and had no more immunodeficiency. After 15 months, the children have gained 464 CD4/mm(3). The initial protocols antiretroviral prescribed among children were: zidovudine-lamivudine-abacavir (36.1%), lamivudine-didanosine-nevirapine (30.5%), lamivudine-stavudine-nevirapine (29.2%), zidovudine-lamivudine-didanosine (4.2%). The digestive disorders have been the first side effects (83.4%). The rate of good observance was middle (51%) and lowered with the increased age of children, and the period of the anti-retroviral treatment. CONCLUSIONS: Antiretroviral treatment among HIV/AIDS infected children is giving good results in Togo. But many efforts remain to increase the number of beneficiaries.     

Pyoderma gangrenosum in a six-month-old boy

Pyoderma gangrenosum (PG) is an uncommon, chronic ulcerative condition of the skin that was first described in 1930. It can occur in any age group, but only 4% of the patients are infants or children. An underlying systemic disease is present in approximately 50% of the patients with PG. The most common associations include inflammatory bowel disease, arthritis, lymphoproliferative disorders and chronic recurrent multifocal osteomyelitis (CRMO). PG has been reported in association with CRMO in only a few children whose ages were between 18 months and 12 years. We report a six-month-old boy who was diagnosed as CRMO based on his clinical examination and histological findings. This is the youngest case reported in the literature (under 12 months of age) with PG associated with CRMO.     

Do Parents Follow Breastfeeding and Weaning Recommendations Given by Pediatric Nurses? A Study With Emphasis on Introduction of Cow’s Milk Protein in Allergy Risk Families

INTRODUCTION: The aim of this study was to retrospectively examine weaning practices during the first year of life in a representative sample of Swedish children and how parents with a history of atopy introduced milk protein in their infant's diet. METHODS: Data were derived from 467 infants visiting Child Health Centers in three different counties in Sweden for a health check up at 12 months of age. RESULTS: The children were breastfed for an average of 7 months (range, 0.2-15 months), and 18% were still breastfed at the age of 12 months. Few infants had received solid food before the age of 4 months (6%) or after the age of 6 months (12%). Cow's milk protein was introduced in disagreement with the current recommendation for children at risk of developing atopy. CONCLUSION: Breastfeeding and weaning recommendations seem to be followed by most families. The creation of routines for the distribution of information concerning weaning foods should be encouraged in order to reach families with special needs; otherwise, implementation of current recommendations and preventive strategies will be less useful.