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BackgroundKBG syndrome is caused by haploinsufficiency of ANKRD11and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined.MethodsCNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature.ResultsWe identified 53 individuals, 44 with CNS and 40 with skeletal imaging. Common CNS findings included incomplete hippocampal inversion and posterior fossa malformations; these were significantly more common than previously reported (63.4% and 65.9% vs 1.1% and 24.7%, respectively). Additional features included patulous internal auditory canal, never described before in KBG syndrome, and the recurrence of ventriculomegaly, encephalic cysts, empty sella and low-lying conus medullaris. We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormalities of carpal bone morphology and maturation, including a greater delay in ossification compared with metacarpal/phalanx bones.ConclusionThis cohort enabled us to describe the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome. Knowledge of the spectrum of such anomalies will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects of ANKRD11variants in skeletal and brain development.

The association between childhood maltreatment and self-conscious emotions has been proven by the literature, but with limited attention to the specific moderating mechanisms involved. Highly sensitive individuals show emotional reactivity, ease of overstimulation, which make them more influenced by childhood maltreatment experiences. The study aims to test whether environmental sensitivity moderated the link between childhood maltreatment and self-conscious emotions of shame and guilt. The sample included 128 children referred for Oppositional Defiant Disorder (M age = 9.05; SD = 1.34). Results showed a significant interaction between maltreatment and environmental sensitivity on guilt and shame (B = 1.81, SE = .84, p< .05; B = 1.69, SE = .83, p< .05): highly sensitive children presented higher levels of shame and guilt following experiences of maltreatment as compared to low sensitive children. These findings may contribute to the literature on the role of environmental sensitivity as an individual trait moderating the effect of a contextual experience.

Background: Lithium is a first-line treatment for bipolar disorder in adults, but its mechanism of action is still far from clear. Furthermore, evidences of its use in pediatric populations are sparse, not only for bipolar disorders, but also for other possible indications. Objectives: To provide a synthesis of published data on the possible mechanisms of action of lithium, as well as on its use in pediatric samples, including pharmacokinetics, efficacy, and safety data. Methods: Clinical trials in pediatric samples with at least one standardized measure of efficacy/ effectiveness were included in this review. We considered: i) randomized and open label trials, ii) combination studies iii) augmentation studies iv) case series including at least 5 patients. Results: Different and non-alternative mechanisms of action can explain the clinical efficacy of lithium. Clinical studies in pediatric samples suggest that lithium is effective in managing manic symptoms/episodes of bipolar disorder, both in the acute phase and as maintenance strategy. Efficacy on depressive symptoms/phases of bipolar disorder is much less clear, while studies do not support its use in unipolar depression and severe mood dysregulation. Conversely, it may be effective on aggression in the context of conduct disorder. Other possible indications, with limited published evidence, are the acute attacks in Kleine-Levin syndrome, behavioral symptoms of X-fragile syndrome, and the management of clozapine- or chemotherapy- induced neutropenia. Generally, lithium resulted relatively safe. Conclusions: Lithium seems an effective and well-tolerated medication in pediatric bipolar disorder and aggression, while further evidences are needed for other clinical indications.

Although a frequent co-occurrence between bipolar disorder (BD) and conduct disorder (CD) in youth has been frequently reported, data about pharmacological management are scarce and focused on BD type I. Second generation antipsychotics are frequently used in clinical practice, but no comparative studies are available. The aim of this exploratory study was to compare efficacy and safety of risperidone and quetiapine in a sample of adolescents presenting a BD type II comorbid with CD. Twenty-two patients diagnosed with a structured interview according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, (male/female ratio, 12/10; mean (SD) age 15.0 (1.4) years) were randomized in 2 treatment groups (quetiapine [n = 12] vs risperidone [n = 10]), treated with flexible doses, and followed up for 12 weeks. Efficacy measures assessed manic symptoms, aggression, anxiety, depression, global clinical severity, and impairment. Safety measures included body mass index, serum prolactin, extrapyramidal adverse effects, and electrocardiogram. At the end of the study, all patients improved in all efficacy measures. Both treatments showed similar efficacy in reducing manic symptoms and aggression. Quetiapine was more effective in improving anxiety and depressive symptoms. A change in body mass index was found, and in a post hoc analysis, it was significant only in the risperidone group. Prolactin significantly increased only in the risperidone group. In BD type II, CD comorbidity, quetiapine, or risperidone monotherapy may be effective and relatively safe, although the small sample size, the limited duration of the study, and the design (lack of a blind assessments and of a placebo group) make it difficult to draw definitive conclusions.

Background: Child psychiatry has enjoyed a long tradition of using brief psychotherapy with children, but research on its efficacy and effectiveness in the setting of routine clinical care is remarkably sparse; the aim of this study was to evaluate the efficacy of an original model of brief psychodynamic psychotherapy (BPP) for children with emotional disorders in a clinical outpatient setting. Methods: A sample of 30 subjects (6.3–10.9 years old) was divided into an experimental BPP group and a control group. Each subject was evaluated at the beginning, after 6 months and at an 18-months follow-up. Outcome measures were Children’s Global Assessment Scale and Child Behavior Check-List. Statistical and clinical significance of change were evaluated. Results: At the first evaluation, the experimental group showed a better improvement in global functioning; at follow-up, the two groups improved to a comparable degree, but only the mean of the experimental group moved to a functional range. The experimental group showed a significant reduction in total behavioral problems and externalizing problems at the follow-up. Conclusions: The better improvement of the experimental group in two outcome measures suggests that BPP is efficient in emotional disorders. The hypothesis that BPP introduces changes at long term (sleeper effects) is suggested. The improvement in global functioning of the two groups is discussed in relation to specific characteristics of emotional disorders. Finally, limitations of the study are discussed and in particular the bias introduced by lack of randomization.

AbstractObjective:The main aim of the research is to study the early behavioral development in autistic children through home movies. Methods:fifteen home movies, regarding the first 2 years of life of autistic children are compared with the home movies of 15 normal children. The films of the two groups were mixed and rated by blind ratings with the Grid for the Assessment of Normal Behavior in Infants and Toddlers. The grid is composed of 17 items grouped into three developmental areas: social competence, intersubjectivity and symbolic activity. For every area, we have identified specific children’s behaviors. Results:Significant differences between the two groups are found both in the range of age 0–6 for intersubjectivity, and in the ranges of age 6–12 and 18–24 for symbolic activity. Conclusions:The authors pose some hypotheses about an early-appearing impairment of intersubjectivity, the ability to represent other’s state of mind, in subjects with autistic disorder.Copyright © 2001 S. Karger AG, Basel