Kaija Puura

Microduplications of 16p11.2 are associated with schizophrenia.

Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 (0.63%) cases and 1/3,971 (0.03%) controls (P = 1.2 × 10−5, OR = 25.8) from the initial cohort, and in 9/2,645 (0.34%) cases and 1/2,420 (0.04%) controls (P = 0.022, OR = 8.3) of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk of schizophrenia (95% CI (3.3, 62)) in the combined sample. A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia (P = 4.8 × 10−7), bipolar disorder (P = 0.017) and autism (P = 1.9 × 10−7). In contrast, the reciprocal microdeletion was associated only with autism and developmental disorders (P = 2.3 × 10−13). Head circumference was larger in patients with the microdeletion than in patients with the microduplication (P = 0.0007).

Bullying and psychiatric symptoms among elementary school-age children.

OBJECTIVE The aim of this study was to assess bullying and psychological disturbance among 5,813 elementary school-aged children. METHOD The data consisted of information given by the parents, teachers, and children themselves (Rutter A2 Scale, Rutter B2 Scale and Childrens Depression Inventory). Children involved in bullying (as bullies, bully-victims, and victims) were compared to other children. RESULTS More boys than girls were found to be involved in bullying. Bully-victims scored highest in externalizing behaviour and hyperactivity, and they themselves reported feelings of ineffectiveness and interpersonal problems. Victims scored highest in internalizing behavior and also psychosomatic symptoms, and they themselves reported anhedonia. Some gender differences in psychiatric symptomatology were also found. Children involved in bullying, especially children who both bullied and were bullied themselves, were psychologically disturbed. More children involved in bullying than others were referred for psychiatric consultation. The probability of being referred was highest among bully-victims (6.5 fold for males and 9.9 for females when compared to children not involved in bullying). CONCLUSIONS The findings indicate that bullying is a common phenomenon among children who are psychologically disturbed. Bullying also elevates the probability of being referred for psychiatric consultation.

Longitudinal study of maternal depressive symptoms and child well-being

OBJECTIVE To investigate whether prenatal, postnatal, and/or current maternal depressive symptoms are associated with low level of psychosocial functioning or high level of emotional/behavioral problems in school-age children. METHOD As part of a prospective longitudinal study, maternal depressive symptoms were screened with the Edinburgh Postnatal Depression Scale prenatally, postnatally, and when the children were 8 to 9 years old. The original sample of 349 mothers was collected in 1989-1990 in Tampere, Finland. Of the 270 mother-child pairs at the latest stage of the study in 1997-1998, 188 mother-child pairs participated and 147 were included. The associations between maternal depressive symptoms at different points in time and the level of childrens psychosocial functioning and problems reported on the Child Behavior Checklist and Teachers Report Form were examined. RESULTS Childrens low social competence and low adaptive functioning were associated with concurrent maternal depressive symptoms. Maternal postnatal depressive symptoms predicted low social competence. The presence of prenatal depressive symptoms in the mother was a strong predictor of childs high externalizing and total problem levels (odds ratio 3.1, 95% confidence interval 1.1-8.9 and odds ratio 8.5, 95% confidence interval 2.7-26.5). Prenatal as well as recurrent maternal depressive symptoms were associated with the least favorable child outcome. CONCLUSIONS Maternal depressive symptomatology at any time, especially prenatally, is a risk factor for the childs well-being. This should be noted already in prenatal care. The timing and the recurrence of maternal depressive symptoms affect the outcome for the child.

Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills

Significance The capacity to remember faces previously seen is strikingly variable between individuals, and differences in that skill are also highly heritable, implying that genetic variation exerts an important influence. Research with rodents has shown the oxytocin receptor (OXTR) plays a critical role in conspecific recognition. We examined whether genetic variants of the OXTR affect face recognition memory in families with an autistic child. We discovered that a single OXTR polymorphism accounted for up to 10% of variation in their test performance, in both UK and Finnish populations. Approximately 35% of family members were homozygous for the risk genotype. Our findings imply that oxytocin’s role in facilitating social recognition has been conserved across perceptual boundaries through evolution, from rodents to humans. The neuropeptides oxytocin and vasopressin are evolutionarily conserved regulators of social perception and behavior. Evidence is building that they are critically involved in the development of social recognition skills within rodent species, primates, and humans. We investigated whether common polymorphisms in the genes encoding the oxytocin and vasopressin 1a receptors influence social memory for faces. Our sample comprised 198 families, from the United Kingdom and Finland, in whom a single child had been diagnosed with high-functioning autism. Previous research has shown that impaired social perception, characteristic of autism, extends to the first-degree relatives of autistic individuals, implying heritable risk. Assessments of face recognition memory, discrimination of facial emotions, and direction of gaze detection were standardized for age (7–60 y) and sex. A common SNP in the oxytocin receptor (rs237887) was strongly associated with recognition memory in combined probands, parents, and siblings after correction for multiple comparisons. Homozygotes for the ancestral A allele had impairments in the range −0.6 to −1.15 SD scores, irrespective of their diagnostic status. Our findings imply that a critical role for the oxytocin system in social recognition has been conserved across perceptual boundaries through evolution, from olfaction in rodents to visual memory in humans.

Design and subjects of a Finnish epidemiological study on psychiatric disorders in childhood

In an epidemiological multi-centre study, parents filled in the Rutter Parent Questionnaire (RA2) and teachers filled in the Rutter Teacher Questionnaire (RB2) for almost 6000 children. The children filled in the Children’s Depression Inventory (CDI). The subjects well represented the entire population of 8–9-year-old children in Finland. The material and design of the study as well as the basic demographic characteristics are presented.

Mother's early perception of her infant's difficult temperament, parenting stress and early mother–infant interaction

The current study investigated factors contributing to mothers early perception of her infants difficult temperament. One hundred and twenty-four mother–infant dyads participated in the study. Mothers perception of the infants temperament was assessed with the Infant Characteristics Questionnaire (ICQ). The influence of mother–infant interaction, mothers mental health and parenting stress were investigated. Mother–infant interaction was videotaped during a face-to-face interaction and analysed using the Global Rating Scale. Mothers mental health was assessed through a structured interview (Structured Clinical Interview for DSM-IV, SCID) and parenting stress was examined by a questionnaire (Parenting Stress Index). First, the difficultness scale of the ICQ was used as a continuous variable and factors contributing to mothers perception of her infants temperament as more or less difficult were examined. Secondly, infants were categorized into difficult and non-difficult, and factors increasing the infants risk of being perceived as difficult were examined. The model including mothers mental health and parental distress accounted for 24% of the variance in perceived infant difficultness, with parental distress in particular being an influential contributor. When infants categorized as difficult were examined, mothers intrusiveness and infants poor interactive behaviour in early mother–infant interaction as well as parental distress significantly increased the infants risk of being perceived as difficult.

Children’s behavioural/emotional problems: a comparison of parents’ and teachers’ reports for elementary school-aged children

This study assessed the agreement between parents and teachers concerning behavioural/emotional symptoms of children. 5671 children born in 1981 (mean age 8.5 years at the time of study) were studied using the Rutter Parent Questionnaire (RA2) and the Rutter Teacher Questionnaire (RB2). Boys had more behavioural symptoms on both scales, 3.6% of the boys and 2.3% of the girls were deviant on both scales. Agreement between parents and teachers on single behaviours was better for deviant girls than for deviant boys. The factors constructed from the Rutter scale items (separately of each scale) represented externalising, internalising and hyperactivity behaviours. For all children, moderate correlations between parents’ and teachers’ ratings were found in externalising behaviour and hyperactivity. Correlations of the factors were clearly higher for deviant girls than for deviant boys. Scoring high on one of the scales increased the probability of scoring high on the second scale. The discussion focuses on factors that may affect agreement between parents and teachers when behavioural symptoms are assessed.

Children with symptoms of depression - What do the adults see?

In order to find out whether parents and teachers report depressive symptoms in children with self-reported depression and which features are connected with sought psychiatric care, a sample of 5682 prepubertal children was assessed with the Childrens Depression Inventory (CDI), the Rutter A2 scale (RA) and Rutter B2 scale (RB). In stepwise regression analysis of parent report, depressed mood, unpopularity, social withdrawal, disobedience, inattentiveness, and stealing were associated with high CDI scores. The items of the teacher report associated with high CDI scores included poor school performance, restlessness, somatic complaints, unresponsiveness, being bullied, and absenteeism from school. Although the parents and teachers readily saw and reported depressive symptoms in children, only for a small minority of children with multiple depressive symptoms had psychiatric care been sought or even considered. The symptoms associated with sought psychiatric care for depressed children were somatic (soiling, asthma) and behavioural (disobedient, restless). The results indicate that a large number of children with multiple depressive symptoms are left without necessary psychiatric assessment and help.

Psychiatric disorders in 8–9-year-old children based on a diagnostic interview with the parents

Using three questionnaires, the Rutter Parent Questionnaire (RA2), The Rutter Teacher Questionnaire (RB2) and the Children’s Depression Inventory (CDI), we screened 8–9-year-old children representing a total annual birth cohort (N=60007) in Finland. In a second stage we interviewed the parents of 119 screen negative, and 316 screen positive children by using a structured parent interview. At the population level the overall prevalence rate for psychiatric disturbance was 21.8%, higher among boys (29.8%) than among girls (12.8%). Nine percent of the children were in urgent need of treatment and, in addition, 25% were in need of assessment. The prevalence of different levels of disturbance was: reactive 9.5%; neurotic 18.4%; borderline 3.1%; and other severe disorders 2.3%. The prevalence of different diagnostic groups were: anxiety disorder 5.2%; depressive disorder 6.2%; specific fears 2.4%; defiant and conduct disorder 4.7%; and attention-deficit hyperactivity-disorder 7,1%. The prevalence for the most common single first Axis-I DSM-III-R diagnoses were: attention-deficit hyperactivity-disorder 7%; dysthymia 4.6%; adjustment disorder with mixed disturbance of emotion and conduct 3.4%; oppositional defiant disorder 2.7%; specific fear 1.7%; anxiety disorder 1.5%; enuresis nocturnal 1.5%; and depression 1.4%. Only 3.1% of the children had visited health professionals for psychiatric problems during the previous three months. Only a minority of the children with psychiatric disturbances had ever consulted health professionals for their problems. Of all the children, 7.5% had a severe psychiatric disturbance that had lasted for more than 3 years.

Behavioural and emotional symptoms in 8–9-year-old children

We present epidemiological data from a multi-centre study on psychiatric symptoms among 6017 8–9-year-old children representing a total annual birth cohort (N=60007) in Finland. The results are based on three questionnaires: the Rutter Parent Scale (RA2), the Rutter Teacher Scale (RB2), the Children’s Depression Inventory (CDI). The proportion of children that scored above the cutoff points, indicating probable psychiatric disturbance, were 11.2% for the RA2, 13.9% for the RB2 and 6.9% for the CDI. Twenty-four percent of the subjects scored above the cutoff point on at least one of the questionnaires. Low family social status and disrupted family relations correlated strongly with high rates of symptoms in the children.