Verhaltensphänotyp des fragilen X-Syndroms

Aim of the study. As many phenotypic signs develop postpubertally, the aim of the study was to analyse the specific behavioural phenotype of the fragile X syndrome (FXS). In addition to that the practical relevance of the applied questionnaires was examined with respect to the pediatric practice. Methods. Parents of 49 boys with FXS and 16 boys with Tuberous Sclerosis filled out the “Child Behavior Checklist”(CBCL/4–18), the“Developmental Behavior Checklist”(DBC) and the “Fragebogen über Verhalten und soziale Kommunikation”(VSK). Results. 90% of boys with FXS had clinically relevant behavioural problems, mainly attentional and hyperactive symptoms.Also social problems and autistic behaviour are common,which can lead to a misdiagnosis of infantile autism.This pattern of behaviour is specific for FXS, even compared to other types of mental retardation. Conclusions. Boys with FXS show a specific behavioural phenotype with a high psychiatric comorbidity – both in comparison to children with normal intelligence and mental retardation.Parental questionnaires, especially for mentally retarded children (DBC), are highly relevant in assessing the behavioural phenotype and planing therapeutical interventions.     

Familial hypercholesterolaemia: a pilot study of parents'and children's concerns

Objective : To assess psychosocial concerns of families with familial hypercholesterolaemia. Methods : One-hundred-and-fifty-four single or pairs of parents of children age 6-16 years responded to a specifically designed questionnaire. One child from each family was interviewed. Results : Eleven percent of parents thought that their quality of life would have been better had they not known about the disease. None agreed totally that they wished that the diagnosis had not been made. However, 20% reported familial conflicts and 8% that their child's emotional or social life had been adversely affected. Conflicts and adverse effects were associated with higher scores on the Child Behaviour Checklist (CBCL). Among the children, worry about cardiovascular disease (affirmed by 22%) was related to male sex and CBCL score. Relevance : Most families do not indicate that they have experienced psychosocial problems due to familial hypercholesterolaemia. Parental ratings of the child's behavioural adjustment may identify vulnerable children.     

Early childhood aetiology of mental health problems: a longitudinal population-based study

Background: Mental health problems comprise an international public health issue affecting up to 20% of children and show considerable stability. We aimed to identify child, parenting, and family predictors from infancy in the development of externalising and internalising behaviour problems by age 3 years. Methods: Design Longitudinal, population‐based survey completed by primary caregivers when children were 7, 12, 18, 24 and 36 months old. Participants 733 children sequentially recruited at 6–7 months from routine well‐child appointments (August–September 2004) across six socio‐economically and culturally diverse government areas in Victoria, Australia; 589 (80%) retained at 3 years. Measures 7 months: sociodemographic characteristics, maternal mental health (Depression Anxiety Stress Scale (DASS)), substance misuse, home violence, social isolation, infant temperament; 12 months: partner relationship, parenting (Parent Behavior Checklist (PBC)); 18, 24 and 36 months: child behaviour (Child Behavior Checklist 1½–5 (CBCL)), PBC, DASS. Results: Sixty‐nine percent of all families attending well‐child clinics took part. The consistent and cumulative predictors of externalising behaviours were parent stress and harsh discipline. Predictors of internalising behaviours included small family size, parent distress, and parenting. Twenty‐five percent of variation in early externalising behaviour and 17% of variation in early internalising behaviour was explained. Conclusions: Effective and cost‐efficient population approaches to preventing mental health problems early in childhood are urgently needed. Programmes must support parents in reducing personal stress as well as negative parenting practices.     

Behaviour problems of patients with Moebius sequence and parental stress

Aim: Moebius sequence is a rare condition usually defined as congenital facial paralysis with congenital impairment of ocular abduction. At present, there is little information on behavioural problems, parental stress and possible relationships between these factors. To fill this gap, this study investigated these aspects relevant for counselling. Methods: Parents of 4–17 year old subjects known to the German Möbius syndrome foundation were anonymously asked to fill out several questionnaires, for example, the Child Behavior Checklist (CBCL)4–18. Results: The primary care givers of 41/58 subjects (70.7%) sent back filled‐out questionnaires. Ten subjects did not meet the inclusion criteria; 15 males and 16 females (4; 7–17; 0 years, median age: 10; 7 years) were included. Ten out of 31 subjects were rated as clinical on at least one CBCL scale; three had a total problem score in the clinical range. Social problems were the most important problems with rates of 12–17‐year old subjects being about five times as high as those of younger subjects. Compared with the general population, but not with other parents of mentally and/or physically handicapped children, the primary care givers experienced higher levels of stress, which were correlated to anxious/depressed behaviour, aggressive behaviour, externalising problems and total problem score of the children. The older a child the higher the primary care giver's life satisfaction was. Conclusions: Social problems seem to be frequent among 4–17‐year old subjects with Moebius sequence, and primary care givers show increased strain. Therefore, families with an affected child need early and adequate support.     

Screening for fragile X syndrome: results from a school for mentally retarded children

Fragile X syndrome is the most common inherited form of familial mental retardation. The purpose of this study was to identify yet unrecognized fragile X individuals and to estimate the frequency of both the FRAXA and FRAXE forms of the disease in a population of mentally retarded children attending a special school in Croatia. The results are reported of molecular screening of 114 children with mild to severe mental retardation. Three individuals (2.6%) with the FRAXA form of the fragile X syndrome and one boy (0.9%) with FRAXE mental retardation were detected; a total of four newly diagnosed fragile X families were identified. Closer clinical examination revealed that behavioural and speech disturbances were clearly present among all fragile X cases (both FRAXA and FRAXE), indicating that these features could be additional diagnostic criteria for the preselection of individuals at risk.

Conclusion: Fragile X screening among mentally retarded children attending a special school should be highly encouraged to reveal the cause of mental retardation and to detect yet unrecognized fragile X individuals. The frequency of fragile X syndrome in a such population in Croatia was found to correlate with similar results from previous studies. However, since at the time of diagnosis all affected families had a second or even a third child born, earlier diagnosis should be considered to provide greater benefit to fragile X families.     

Do paternal arrest and imprisonment lead to child behaviour problems and substance use? A longitudinal analysis

BACKGROUND: Children of prisoners are at increased risk of impaired health, behavioural problems and substance misuse; however, the causal pathways to these problems are unclear. Under some circumstances, parental imprisonment may result in improved outcomes for the child. This study investigates the impact of paternal arrest and imprisonment on child behaviour and substance use, as a function of child gender, and in the context of known social and familial risk factors. METHODS: Longitudinal analysis of an Australian birth cohort (N = 2,399) recruited 1981-83, with child outcomes measured at age 14. Participants were recruited prenatally from a large, public hospital in Brisbane, Australia and followed up in the community. History of paternal arrest and imprisonment were based on maternal self-report, at age 14. Outcome measures included mother- and child-reported internalising and externalising behaviour (CBCL and YSR), and child self-reported alcohol and tobacco use. RESULTS: In univariate analyses, paternal imprisonment was associated with maternal reports of increased child internalising (OR = 1.82, 95%CI 1.08-3.06) and externalising (OR = 2.24, 95%CI 1.41-3.57), and alcohol use (OR = 1.68, 95%CI 1.11-2.53) at age 14. However, controlling for socio-economic status, maternal mental health and substance use, parenting style and family adjustment, these associations became non-significant. For boys only, in the multivariate model paternal arrest but not imprisonment predicted alcohol (OR = 1.79, 95%CI 1.09-2.95) and tobacco (OR = 1.83, 95%CI 1.03-3.25) use at age 14. CONCLUSIONS: The association between paternal arrest and imprisonment and adverse outcomes in adolescence is accounted for by well-established social and familial risk factors. Paternal imprisonment may not, in itself, increase the risk for child behaviour and substance use problems.     

Health pedagogic foster families. A model for the rehabilitation of handicapped children from families at-risk

Rehabilitation of retarded children puts an enormous strain on parents. Families with various social risk factors are frequently not able to cope with these problems. Admission to institutes is a frequent consequence. Since 1982 47 mentally and psychologically handicapped children from families with various psychosocial problems were admitted to foster families. Foster parents were carefully selected and educated by a team of physicians, psychologists and social workers and given continuing supervision. Children were evaluated by medical and psychological testing: The majority of children showed significant improvement of performance in psychologic testing, alleviation in their psychosocial as well as medical problems. Numbers and duration of hospital admissions were substantially reduced. The overall condition of these children was markedly improved by foster families.     

The impact of structured activities among Palestinian children in a time of conflict

BACKGROUND: There is growing evidence of the impact on children's well-being of exposure to political conflict in such settings as the Palestinian territories. This study examined the impact of child-focused interventions involving structured activities, supported by provision of equipment and training of facilitators. The focus of interventions was participation in recreational, cultural and other non-formal activities supporting the development of resilience. Impacts were hypothesised on children's social and emotional well-being, relationships with parents and degree of future orientation. METHODS: Two hundred and fifty children from the West Bank and 150 children from Gaza took part in the study. Of these 400 children, 300 comprised the intervention group. Fifty children from Gaza and 50 children from the West Bank comprised the comparison group. There were equal numbers of girls and boys in all groups, with similar proportions of children aged between 6 and 11 years, and between 12 and 17 years. Measures used were the Child Behavior Checklist (CBCL), the Parental Support Scale and the Hopefulness Scale: Youth Version. Assessment was made as children enrolled on the structured activity programmes (T1) and again twelve months later (T2). RESULTS: There was no difference in the CBCL Total, Internalising or Externalising problem scores at baseline (Time 1) between the children who subsequently took the intervention and those who did not. Compared to children in the comparison group, children in the intervention group had lower CBCL total problem scores, externalising problem scores, and internalising problem scores at Time 2 compared to Time 1. Exposure to the intervention was not associated with changes in children's hopefulness, but those receiving the intervention in the West Bank did report improved parental support at Time 2. CONCLUSIONS: The intervention appeared successful in improving children's emotional and behavioural well-being but not hopefulness. It was also linked with increased parental support in some areas (those located in the West Bank).     

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.     

Genetic analysis of a group of mentally retarded children

Genetic analysis of 169 mentally retarded (MR) children from Madras, revealed chromosomal abnormalities in 17%. Down syndrome was the major chromosomal anomaly (24/169=14.2%). These included three cases of trisomy-21 mosaics, and one case ofde novo Robertsonian translocation. MR children with chromosomal abnormalities were either mildly or moderately retarded. Syndromes with known etiology occurred in 3% of the MR cases. Microcephaly, neonatal anoxia, perinatal stress and pharmacological attempt for abortion were found to be important pathogenic factors associated with MR. Most of the microcephalies (11/ 169=6.5%) were severely retarded, whereas those associated with neonatal anoxia and perinatal stress were either mildly or moderately retarded. Birthorder effects were found only among Down syndrome patients. Segregation analysis of the three groups of proband families (viz. mild, moderate and severe MR) indicated that autosomal recessive mode of inheritance is compatible in moderate and severe MR proband families. The proportion of X-linked instances of MR is estimated to be about 22% of the cases.     

Difficulties of families with handicapped children after the Hanshin-Awaji earthquake

In order to clarify the difficulties which handicapped people experienced in the Hanshin-Awaji earthquake disaster, 678 families with handicapped children were studied 1.5 months after the earthquake. All the students who were enrolled in this study were going to some type of school or training classes for handicapped children in January 1995. The study was completed between 1 and 10 March. The questionnaires which were designed for this study consisted of three parts: the difficulties which the families were faced with, their requirements for social and medical services and the symptoms and reactions of their children after the earthquake. A total of 466 answers were obtained from their parents. The kinds of difficulties differed between the families of mentally retarded children and those of the physically handicapped. While many parents with physically handicapped children desired better medical information or materials, many parents with mentally retarded children wanted better care services for their children. Physical and psychological effects of the earthquake were only temporary in most cases. However, some of the handicapped children were still suffering from such reactions as of 10 March. From the results of our study it became evident that a systematic relief program for these handicapped people should be established. The relief program should include the distribution of information regarding medical and social services. Psychological reactions such as panic, excitement and suppression of mental activity were still observed in some handicapped children on 10 March. Further observation will therefore be necessary.     

Prevention of mental health problems: rationale for a universal approach.

BACKGROUND AND OBJECTIVE: Mental health problems are a public health issue affecting as many as 20% of children in modern communities. Risk factors for externalising and internalising problems can occur in infancy. Infants at high risk live in stressed families with parent mental health problems, substance misuse, relationship conflict, social isolation, financial problems or infant temperamental difficulty. Although current prevention programmes target services to high-risk groups, targeting can stigmatise families and miss many children in need. The addition of universal prevention programmes for all families could address these concerns. This survey assessed the prevalence of infants at risk attending a primary care service as a delivery point for universal prevention. DESIGN: Survey of mothers of 6-month-old infants attending well-child clinics across six government areas of Melbourne, Victoria, Australia, between August and September 2004. A brief survey measured sociodemographic characteristics and the following family risks: maternal depression, anxiety, stress, substance misuse, violence at home, social isolation and infant temperamental difficulty. RESULTS: The survey was completed by 733 mothers, representing 69% of infant births presented to the primary care service. Of these, 39% of infants were classified as at risk for developing mental health problems. The percentage of infants classified as at risk was not markedly dissimilar across socioeconomic levels (low, 42%; middle, 40%; high, 35%). CONCLUSIONS: A substantial number of infants attending routine universal primary care are at risk of developing mental health problems. This primary care setting could provide an ideal platform for preventing early externalising and internalising problems via a universally offered, evidence-based parenting programme.     

Attention across modalities as a longitudinal predictor of early outcomes: the case of fragile X syndrome

Background: Fragile X syndrome (FXS) is an early diagnosed monogenic disorder, associated with a striking pattern of cognitive/attentional difficulties and a high risk of poor behavioural outcomes. FXS therefore represents an ideal model disorder to study prospectively the impact of early attention deficits on behaviour. Methods: Thirty‐seven boys with FXS aged 4–10 years and 74 typically developing (TD) boys took part. Study 1 was designed to assess visual and auditory attention at two time‐points, 1 year apart. Study 2 investigated attention to multimodal information. Both tested attention markers as longitudinal predictors of risk for poor behaviour in FXS. Results: Children with FXS attended less well than mental‐age matched TD boys and experienced greater difficulties with auditory compared to visual stimuli. In addition, unlike TD children, they did not benefit from multimodal information. Attention markers were significant predictors of later behavioural difficulties in boys with FXS. Conclusions: Findings demonstrate, for the first time, greater difficulties with auditory attention and atypical processing of multimodal information, in addition to pervasive global attentional difficulties in boys with FXS. Attention predicted outcomes longitudinally, underscoring the need to dissect what drives differing developmental trajectories for individual children within a seemingly homogeneous group.     

Autism and mental retardation: a study of the early social communication]

OBJECTIVE: To determine developmental communication profiles in young autistic children with mental retardation. METHODS: A group of 19 autistic children (mean age=43 months) were matched with a group of 11 mentally retarded children (mean age=39 months) on mental age (17,6 months). All of these children were without speech (less than 5 words of vocabulary). Communication skills were assessed with the Guidetti-Tourrette scales (ECSP), French adaptation of the Seibert-Hogan scales. RESULTS: Autistic children displayed a much lower score than mentally retarded children in the 3 functions of early social communication (behavior regulation, social interaction and joint attention). The developmental communication profiles was the same in the 2 groups. DISCUSSION: The results showed evidence of distortion in autistic children development: they displayed important deficits in communication skills, in comparison with cognitive skills. Autistic children mainly displayed requesting gestures: they used adults to help them to reach a goal, instead of regarding them as social partners. However, young children who have mental age less than 18 months mainly use the same functions of communication, with or without autistic trouble. CONCLUSIONS: There is a same developmental sequence in communication skills in young children, with or without autistic trouble.     

Discrepancies between Mothers' and Fathers' Perceptions of Sons' and Daughters' Problem Behaviour: A Longitudinal Analysis of Parent-Adolescent Agreement on Internalising and Externalising Problem Behaviour

One hundred and ninety-eight adolescents and their mothers ( N = 189) and fathers ( N = 136) participated in a 4-year longitudinal study. Adolescent problem behaviour was assessed by the Youth Self-Report (YSR) and the Child Behavior Checklist (CBCL). In addition, parental stress and marital adjustment were determined.
Results showed that mothers and fathers showed high agreement, especially about their daughters, whereas parents and adolescents showed little agreement. Agreement was higher for internalising than for externalising behaviours. In general, adolescents reported more symptomatology than their parents did. However, mothers' ratings of their children's behaviours were significantly correlated with adolescents' self-ratings, but fathers' ratings were not. Statistical tests of correlations showed that mothers experiencing stress caused by marital problems perceived more problem behaviours in their children. Fathers' perceptions were relatively unaffected by personal adjustment. However, poor marital adjustment perceived by both parents showed a significant negative relation to adolescent externalising problem behaviour.     

THE EFFECTS OF MENTALLY HANDICAPPED CHILDREN ON FAMILIES–A CONCEPTUAL REVIEW

Recent research which examines the effects of mentally handicapped children upon families is reviewed. The studies are grouped into three categories based on the underlying conceptions which appear to guide them. The first category examines which families are most vulnerable to the presumed stress of a mentally handicapped child. The second category emphasises the material and practical problems families experience. The third category stresses the competence of families and describes the resources used to develop coping strategies. Links are drawn between these three categories and to parallel developments in related areas, and implications for future research are discussed.     

Long term behavioural outcome after neonatal arterial switch operation for transposition of the great arteries

Aims: To evaluate behavioural outcome and quality of life in children aged 8–14 years after neonatal arterial switch operation for transposition of the great arteries. Methods: Sixty children operated as neonates with combined deep hypothermic circulatory arrest and low flow cardiopulmonary bypass were evaluated at age 7.9–14.3 years by the Child Behaviour Checklist (CBCL) and the Inventory for the Assessment of the Quality of Life in Children and Adolescents (IQCL). Results: Parent reported behavioural outcome on all CBCL problem and competence scores was worse, whereas quality of life on self reported IQCL scores was not reduced compared to the normal population. On multivariate analysis, severe preoperative hypoxia was related to parent reported social problems; peri- and postoperative cardiocirculatory insufficiency was associated with internalising, externalising, attention, and total behavioural problems. Reduced expressive language was associated with total behavioural problems, and poor academic achievement was related to parent reported deficits in school performance. Impaired neurological status and reduced endurance capacity both predicted self reported stress by illness. Conclusions: The neonatal arterial switch operation with combined circulatory arrest and low flow bypass is associated with parent reported long term behavioural impairment, but not with self reported general reduction in quality of life. This discrepancy may be a result of different perception of illness. In our experience, increased risk of long term psychosocial maladjustment after neonatal corrective cardiac surgery is related to the presence of neurological impairment and reduced endurance capacity.     

Active epilepsy in mentally retarded children. II. Etiology and reduced pre– and perinatal optimality

A population–based study of active epilepsy in mentally retarded children identified 98 children, 6–13 years old. A biopathological origin was established in 66% of mildly and 92% of severely retarded children: a prenatal etiology was considered in 51 % and 57%, a perinatal in 9% and 19%, a postnatal in 6% andl6% and an untraceable etiology in 34% and 8%, respectively. Severe mental retardation was more frequent in the peri– and postnatal groups (80% and 83%) than in the prenatal and untraceable groups (67% and 29%). Thirty–four pre– and perinatal optimal items were defined. Children with a prenatal etiology did not differ from controls in any of the periods. Children with a perinatal etiology had, compared with controls, higher proportions of non–optimal items successively increasing through the pre– and perinatal periods showing the accumulation of negative events. Children, epilepsy, etiology, mental retardation, reduced optimality     

Developmental trajectories and correlates of sensory processing in young boys with fragile X syndrome

BACKGROUND AND PURPOSE: No longitudinal study on sensory processing in children with fragile X syndrome (FXS) exists. This study examined developmental trajectories and correlates of sensory processing from infancy through preschool years in 13 boys with FXS. METHOD: Participants were assessed using observational and parent-report measures 2-6 times between 9 and 54 months of age. RESULTS: Over time, an increasing proportion of boys displayed sensory processing that differed significantly from test norms. Observational measures were more sensitive than parent-reports early in infancy. Age and developmental quotient significantly predicted levels of hyporesponsiveness; there was a trend for hyperresponsiveness to increase with age. Baseline physiological and biological measures were not predictive. CONCLUSIONS: Sensory processing problems are observable early and grow increasingly problematic from infancy through the preschool ages. Early identification and intervention may attenuate long-term difficulties for children with FXS.     

Psychosocial adjustment and physical health of children living with maternal chronic pain

AIM: There is limited research examining the functioning of children living with parental chronic pain and illness. The aim of this study was to examine the psychosocial adjustment and physical health of children living with a mother experiencing chronic pain. METHODS: One-hundred and three children aged 6-12 years served as participants, with approximately equal numbers of children in maternal chronic pain (n=55) and control groups (n=48). Children completed self-reports about their internalising behaviour, health and attachment security. Mothers, fathers and teachers completed questionnaires relating to children's internalising and externalising behaviour, social behaviour and physical health. RESULTS: Reports from children, mothers and fathers indicated significantly more internalising, externalising, insecure attachment and social and health problems for children in the maternal chronic pain group compared with control children. Teachers reported decreased social skills and increased pain complaints for children in the maternal chronic pain group. Boys in the maternal chronic pain group appear to be affected more than girls. Boys reported more anxiety and insecure attachment, while mothers reported greater social problems and increased illness behaviour for boys. Characteristics of the mother's pain condition, such as, severity, length and frequency were generally unrelated to child functioning. CONCLUSIONS: The study demonstrates the importance of maternal and family variables to child outcomes. The results are discussed in terms of maternal chronic pain comprising a considerable, yet rarely studied, influence in the lives of young children.