Child characteristics associated with child quality of life and parenting stress in Angelman syndrome.

BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterised by severe intellectual disability, movement disorder, epilepsy, sleeping problems, and behavioural issues. Little is known on child health-related quality of life (HRQoL) in AS. AS family studies have reported elevated parenting stress and a high impact of the child's syndrome on the parent. It is unclear which factors influence child HRQoL and parenting stress/impact in AS. METHODS: We collected data prospectively through standardised clinical assessments of children with AS at the ENCORE Expertise centre for Angelman Syndrome at the Erasmus MC Sophia Children's Hospital. A linear regression analysis was conducted for the following outcome variables: (1) child HRQoL (Infant and Toddler Quality of Life Questionnaire); (2) the impact of the child's syndrome on the parent (Infant and Toddler Quality of Life Questionnaire); and (3) parenting stress (Parenting Stress Index). Predictor variables were child genotype, epilepsy, sleeping problems (Sleep Disturbance Scale for Children), cognitive developmental level (Bayley Cognition Scale), autistic features (Autism Diagnostic Observation Schedule) and emotional/behavioural problems (Child Behaviour Checklist). Covariates were sex, age and socio-economic status. RESULTS: The study sample consisted of 73 children with AS, mean age = 9.1 years, range = 2-18 years. Emotional/behavioural problems were the strongest significant predictor of lowered child HRQoL. Internalising problems were driving this effect. In addition, having the deletion genotype and higher age was related to lower child HRQoL. Sleeping problems were related to a higher impact of the child's syndrome on the parent. Finally, emotional/behavioural problems were associated with higher parenting stress. Cognitive developmental level, autistic features and epilepsy were not a significant predictor of child HRQoL and parenting stress/impact. CONCLUSIONS: These results suggest that interventions aimed at increasing child HRQoL and decreasing parenting stress/impact in AS should focus on child emotional/behavioural problems and sleeping problems, using a family-centred approach.

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).

In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1.

[Treatment options for paediatric trichotillomania]. / Behandelopties bij pediatrische trichotillomanie.

BACKGROUND: Trichotillomania (TTM) is a psychiatric condition that first manifests itself in infancy and adolescence. If untreated, the condition can become chronic. TTM places a considerable burden on the individual patient. The condition is often linked to social isolation and the emergence of somatic and psychiatric comorbidity. Nevertheless, investment in research, particularly in the pharmacotherapeutical area, has been rather limited. AIM: To provide an overview of the phenomenology of TTM, the associated comorbidity and the therapies available for treating this underexposed child psychiatric disorder. METHOD: We searched PubMed using the the MeSH term 'trichotillomania/therapy' and located 49 relevant articles. RESULTS: We found 49 usable articles. Selective serotonine reuptake inhibitors (SSRIs) are the most frequently prescribed drugs for the treatment of pediatric TTM, although their efficacy is not yet proven. The results of a meta-analysis of several SSRIs did not differ significantly from the results obtained with patients who had been prescribed only placebos. The efficacy of SSRIs in youths has not been studied yet. A meta-analysis of clomipramine with adult TTM patients did show a statistical difference with the control group. The efficacy of clomipramine in youths has not yet been studied. In a randomised controlled trial (RCT), treatment of adult TTM patients with olanzapine proved to be more effective than placebos. Despite this RCT and the positive results of open-label studies with pimozide and haloperidol in adults, there is no research available concerning the efficacy of antipsychotics in children and youths. In an RCT with 7-8 year-olds, cognitive behavioural therapy was found to decrease the symptoms in 75% of the participants. CONCLUSION: For now there's only evidence for HRT as effective intervention in children and youths with TTM.

ASD Symptom Severity in Adolescence of Individuals Diagnosed with PDD-NOS in Childhood: Stability and the Relation with Psychiatric Comorbidity and Societal Participation.

The current 7-year follow-up study investigated: (1) the stability of ASD severity, and (2) associations of ASD severity in adolescence with (a) childhood and concurrent psychiatric comorbidity, and (b) concurrent societal functioning. The Autism Diagnostic Observation Schedule (ADOS) and the Diagnostic Interview Schedule for Children were administered in childhood (ages 6-12) and in adolescence (ages 12-20) to 72 individuals with a pervasive developmental disorder-not otherwise specified (PDD-NOS). ADOS calibrated severity scores showed a large stability (r = .51). Psychiatric comorbidity in childhood and adolescence were not associated with ASD severity in adolescence. Mental health care use (87 %) and special education needs were high (71 %). Reevaluation of ASD severity and psychiatric comorbidity later in life seem useful when PDD-NOS is diagnosed in childhood.

[Personality traits in adults with autism spectrum disorders measured by means of the Temperament and Character Inventory]. / Persoonlijkheidsaspecten bij volwassenen met autismespectrumstoornissen gemeten met de 'Temperament and Character Inventory' (TCI).

BACKGROUND: There is growing interest in autism spectrum disorders (asd) in adulthood. Someone can be diagnosed with ASD, but the diagnosis tells us very little about the patient’s temperament, character and personality. Comparatively little is known about the personality traits of persons with ASD. AIM: To map personality traits of persons with asd. METHOD: The Temperament and Character Inventory (tci) was administered to a group of 68 men diagnosed with asd at the Lucertis Sarr expertise centre for Autism and at the Department of Psychiatry, Erasmus mc, Rotterdam, the Netherlands. The control group, specified in the instructions for the tci, consisted of a group of 447 men from the general population. RESULTS: Compared to the control group, men with asd scored higher on the scale Harm Avoidance, but lower on Sociability, Novelty Seeking, Reward Dependence, Self-directedness, and Cooperativeness. CONCLUSION: The score pattern found in men with asd is consistent with the clinical picture of asd and corresponds to earlier results of research done in Sweden. In our study we argue that negatively interpreted temperament and character traits can often be interpreted in a positive way.

Counselling of the climacteric woman. Diagnostic difficulties and therapeutic possibilities.

The psycho(patho)logical disorders during climacteric can only be adequately diagnosed and treated if the gynaecologist also pays clinical attention to the biographically related adaptation troubles of the woman in (peri)menopause. Psychoneurotic and psychosomatic reactions are frequent; psychotic reactions are rarely seen. The anxiety neuroses of this age of life are triggered less by sexual factors, but more by angry impulses. This anxiety can be expressed in a paranoid behaviour. Most adaptation difficulties and psychiatric disorders during menopause can and should be effectively treated by the gynaecologist. Theoretical understanding and practical experience concerning the counselling of psychosomatic patients are indispensable.

Coping style and preterm labor.

Psychometric tests (State-Trait Anxiety Index and Utrechtse Coping Lijst) were administered to 23 primigravidae hospitalized for preterm labor and to 22 controls in order to investigate whether women with and without preterm labor present a different coping style or (in) effectiveness of this coping and whether the coping style predicts duration of hospitalization and gestational age at delivery. No significant differences in trait anxiety nor in coping style were found between women with and women without preterm labor. However, within the group of women with preterm labor, coping mechanisms are important predictors of course and outcome of the preterm contractions. Palliative coping and social support seeking are protective mechanisms while active coping has an adverse effect upon outcome: an older gestational age at the moment of delivery is for 44% predicted by a higher social support seeking and a lower active coping.

Individual coping style and psychological attitudes during pregnancy and predict depression levels during pregnancy and during postpartum.

Fifty primigravidae were investigated from 30 weeks of gestation until 6 months after delivery to assess the predictive value of individual coping style, conception time and specific psychological changes during pregnancy for the depression levels assessed during the third trimester of pregnancy and 5 days, 6 weeks and 6 months after delivery. The individual coping style is an effective predictor of depression levels during the third trimester of pregnancy and 6 months after delivery, but not for the depression levels 5 days and 6 weeks after delivery. A path analysis revealed that high depressive coping and low social support-seeking predict a longer conception time, which all predict a more important lack of spousal support during pregnancy. Higher depressive coping, a longer conception time and a more important lack of spousal support during pregnancy all predict high depression levels 6 months after delivery. The present findings thus suggest helpful predictors for the psychological adaptation during the transition to parenthood.

Personality characteristics, psychoendocrinological stress and outcome of IVF depend upon the etiology of infertility.

Personality characteristics, psychoendocrinological stress responses and course and outcome of treatment were investigated in 40 women undergoing in vitro fertilization (IVF). In addition to classification by the major causes of infertility (mechanical infertility or male infertility), the subjects were also divided in two subgroups of 17 women with completely 'normal' menstrual cycles and 23 women with subtle disturbances of their menstrual cycle. These disturbances were due to either minimal endometriosis, luteinized unruptured follicle (LUF) syndrome or luteal phase insufficiency. Women with subtle cycle disturbances have been shown to have a lower pregnancy rate in IVF than women with normal cycles. The correlation of the state anxiety level of the patient in the early follicular phase with negative outcome in IVF is seen to be higher in women with subtle cycle disturbances. Furthermore, prolactin concentrations are always higher in women with subtle cycle disturbances. Our data contribute to the hypothesis that subtle cycle disturbances, i.e. LUF syndrome, luteal phase insufficiency and endometriosis, could be associated with higher psychoendocrinological stress levels.

Coping and the ineffectiveness of coping influence the outcome of in vitro fertilization through stress responses.

The effect of a coping-ineffectiveness of coping construct and of psychoendocrine stress responses upon the outcome of in vitro fertilization treatment was investigated in 40 women. Women with a high Zung depression score, high active coping, high avoidance, and a high expression of emotion have lower pregnancy rates. The mechanisms for this personality effect are not clear, although the desensitization-stimulation process (FSH, E2 concentrations) seems to be involved. The psychoendocrinological responses to the stress of oocyte retrieval and embryo transfer are important: Women with high anticipatory state anxiety levels and high anticipatory cortisol concentrations have lower pregnancy rates. The influence of prolactin stress concentrations is unclear: Women with high prolactin concentrations seem to have more oocytes but lower fertilization rates.

Coping, ineffectiveness of coping and the psychoendocrinological stress responses during in-vitro fertilization.

The psychoendocrinological stress responses during in-vitro fertilization (IVF) and embryo transfer (ET) were investigated in 40 women as a function of a 'coping-ineffectiveness of coping' construct. The results demonstrate an important dissociation between emotional and endocrine stress responses and the existence of relatively independent dimensions of arousal (emotional, prolactin, cortisol). The emotional stress response, i.e. state anxiety levels, are for 34-59% predicted by chronic ineffectiveness of coping, and this both before (anticipation) and after (recovery) the stress of oocyte retrieval (OR) and embryo transfer. The effect of anticipatory stress, i.e. in the follicular phase and before oocyte retrieval or embryo transfer, on prolactin and cortisol release is more important in women with a high chronic ineffectiveness of coping while the effect of oocyte retrieval itself is more important in women who are effective copers. Other prolactin concentrations, i.e. after OR or ET, are for 14-26% predicted by low palliative coping and high avoiding. Other cortisol concentrations, i.e. after OR or ET, are for 13-19% predicted by comforting ideas. The advantages of this 'coping-ineffectiveness of coping' construct are weighed against the 'effectiveness of defenses' construct described by Wolff et al. Psychosom Med 1964; 26: 406-413. It is suggested that these personality dependent stress responses are important for conception rates in spontaneous cycles as well as in stimulated cycles.

[The biological properties of the HIV isolated from a virus carrier living in the Byelorussian SSR]. / Biologicheskie svoistva VICh, vydelennogo ot virusonositelia, prozhivaiushchego v BSSR.

Biological properties of an AIDS agent first isolated from a native citizen in the USSR are presented. The source of the virus was a young Byelorussian woman who in the near past had had sexual contacts with a citizen from one of the Central Africa countries. The isolate is thought to be of HIV-I type. It replicated perfectly in many continuous lymphocyte lines and had HIV-characteristic morphology. The protein spectrum of the isolate was gp120, gp41, p65/51, p55, p32, p24, p17. Reverse transcriptase activity was detected in the culture fluid of the virus-containing cell cultures. The isolate was designated HIV-IZ.

Isolation and partial characterization of an unusual human immunodeficiency retrovirus from two persons of west-central African origin.

An unusual human retrovirus was isolated from two patients with persistent generalized lymphadenopathy who originate from West-Central Africa and are currently residing in Belgium. Although the virus shared a number of the same biological and morphological properties as human immunodeficiency retrovirus type 1 (HIV-1) and HIV-2, significant antigenic differences could be demonstrated. Several of the viral proteins also differed in molecular weight from the corresponding HIV-1 and HIV-2 proteins. Partial chemical cleavage of the most highly conserved viral proteins resulted in patterns which differed from those of HIV-1 and HIV-2. Furthermore, nucleic acid hybridization experiments were capable of discriminating between the virus types. Sequence analysis of the viral U3 region revealed a unique enhancer organization not found in other immunodeficiency viruses. The data indicated that the new isolate is more closely related to HIV-1 than to HIV-2 but clearly differs in a number of important respects.

The effect of a specific emotional stressor on prolactin, cortisol, and testosterone concentrations in women varies with their trait anxiety.

The psychological and the hormonal response to a specific emotional stressor (a video film on treatment of infertility, pregnancy, and delivery) was investigated in 30 women and the responses were correlated with their trait anxiety level. The experiment included a resting period before and after the stressor. The psychological response, i.e., the change in state anxiety, was in phase with the stressor and varied with the trait anxiety level. The endocrinological response, i.e., the time courses of prolactin, cortisol, and testosterone, was not in phase but varied with the trait anxiety level. It is suggested that psychological phenomena as anticipation, mental assimilation, and reflection could explain these findings, and that these should be taken into account when investigating the so-called "psychological" infertility.

Impact of facial burns on the family.

At the University Burn Unit in Leuven (Belgium), we have been working for 4 years now with a multidisciplinary reintegration program. Our team consists of a plastic surgeon (head of the unit), a physical therapist, a social worker and a child psychiatrist. We set up family, context-oriented counselling for the families of seriously burned patients. In this paper, we would like to illustrate some aspects of the importance of facial scars in our society as well as the consequences of such scars for the families of patients. These are 2 essential aspects which have to be taken into account so that the counsellors and family do not reach a deadlock. We discuss how this therapy can be applied. Cooperation with the school is a keystone in the application of such therapy. The teacher is involved as a reflection of the feelings of the parents. Via this intermediary they learn how to cope with their feelings and to talk about them. The team has experienced this as an important step in the construction of family therapy.