Young children engage in a significant amount of ritualistic, repetitive, and compulsive-like activity that appears to be part of their normal behavioral repertoire. Empirically, little is known about the onset, prevalence, and developmental trajectory of these phenomena. A parent-report questionnaire, the Childhood Routines Inventory (CRI), was developed to assess compulsive-like behavior in young children, and was administered to 1,492 parents with children between the ages of 8 and 72 months. The CRI has strong overall internal consistency and a distinct two-factor structure. The frequency of compulsive-like behaviors changes with age: Two-, 3-, and 4-year-olds engaged in more compulsive behavior than children younger than 1 year of age and older than 4 years of age. Results are discussed from a developmental psychopathology framework and for their implications for future research in this area.

Neurodevelopmental disorders can be caused by many different genetic abnormalities that are individually rare but collectively common. Specific genetic causes, including certain copy number variants and single-gene mutations, are shared among disorders that are thought to be clinically distinct. This evidence of variability in the clinical manifestations of individual genetic variants and sharing of genetic causes among clinically distinct brain disorders is consistent with the concept of developmental brain dysfunction, a term we use to describe the abnormal brain function underlying a group of neurodevelopmental and neuropsychiatric disorders and to encompass a subset of various clinical diagnoses. Although many pathogenic genetic variants are currently thought to be variably penetrant, we hypothesise that when disorders encompassed by developmental brain dysfunction are considered as a group, the penetrance will approach 100%. The penetrance is also predicted to approach 100% when the phenotype being considered is a specific trait, such as intelligence or autistic-like social impairment, and the trait could be assessed using a continuous, quantitative measure to compare probands with non-carrier family members rather than a qualitative, dichotomous trait and comparing probands with the healthy population.

Background Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes. Method To clarify the phenotype of 16p11.2 deletion, we examined psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. 85 Individuals with the 16p11.2 deletion, and 153 familial controls, were evaluated for symptom presentation and clinical diagnosis using an extensive standardized assessment battery across 3 clinical sites. Results Individuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonological processing disorder, expressive and receptive language disorders (71% of individuals over 3 years of age with a speech and language related disorder), and autism spectrum disorder (ASD). Individuals with the 16p11.2 deletion not meeting diagnostic criteria for ASD had significantly higher prevalence of autism-related characteristics compared to the familial non-carrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than non-carrier family members on average. Conclusion Clinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly those associated with the broader autism phenotype.

Young children engage in a significant amount of ritualistic, repetitive, and compulsive-like activity that appears to be part of their normal behavioral repertoire. Empirically, little is known about the onset, prevalence, and developmental trajectory of these phenomena. A parent-report questionnaire, the Childhood Routines Inventory (CRI), was developed to assess compulsive-like behavior in young children, and was administered to 1,492 parents with children between the ages of 8 and 72 months. The CRI has strong overall internal consistency and a distinct two-factor structure. The frequency of compulsive-like behaviors changes with age: Two-, 3-, and 4-year-olds engaged in more compulsive behavior than children younger than 1 year of age and older than 4 years of age. Results are discussed from a developmental psychopathology framework and for their implications for future research in this area.

Purpose:To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of 1q21.1 deletion and duplication carriers ascertained through clinical genetic testing and family member cascade testing, with particular emphasis on dimensional assessment across multiple functional domains. Methods:Nineteen individuals with 1q21.1 deletion, 19 individuals with the duplication, and 23 familial controls (noncarrier siblings and parents) spanning early childhood through adulthood were evaluated for psychiatric, neurologic, and other medical diagnoses, and their cognitive, adaptive, language, motor, and neurologic domains were also assessed. Twenty-eight individuals with 1q21.1 CNVs (15 deletion, 13 duplication) underwent structural magnetic resonance brain imaging.Results: Probands with 1q21.1 CNVs presented with a range of psychiatric, neurologic, and medical disorders. Deletion and duplication carriers shared several features, including borderline cognitive functioning, impaired fine and gross motor functioning, articulation abnormalities, and hypotonia. Increased frequency of Autism Spectrum Disorder (ASD) diagnosis, increased ASD symptom severity, and increased prevalence of macrocephaly were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of microcephaly was observed in the deletion carriers.Conclusions: Individuals with 1q21.1 deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference.

Abstract-Recent studies have started to suggest that, beyond effects of individual socioeconomic profiles, socioeconomic characteristics of residential neighborhoods are independently associated with blood pressure. However, mechanisms involved in these associations remain unknown. To distinguish between different mechanisms, we investigated whether specific risk factors of hypertension (physical inactivity, alcohol consumption, smoking, body mass index, waist circumference, and resting heart rate) intervene as mediators in the associations between individual or neighborhood socioeconomic characteristics and systolic blood pressure. We relied on data from the RECORD Cohort Study (Residential Environment and CORonary heart Disease) on 5941 participants recruited in [2007][2008], aged 30 to 79 years, residing in 1824 neighborhoods in the Paris metropolitan area. Systolic blood pressure increased independently and regularly with both decreasing individual education and decreasing residential neighborhood education. Body mass index/waist circumference and resting heart rate mediated an appreciable share of the associations between education and blood pressure and, adding validity to the finding, were the 2 most significant mediators for the effects of both individual education and neighborhood education. We found that 52% (95% CI: 25% to 79%) of the association between neighborhood education and blood pressure was mediated by body mass index/waist circumference and 20% (95% CI: 5% to 36%) by resting heart rate. Future research will have to clarify the exact mechanisms through which body weight and shape and resting heart rate intervene as mediators in the associations between individual/neighborhood education and blood pressure. Key Words: blood pressure Ⅲ socioeconomic factors Ⅲ residence characteristics Ⅲ social environment Ⅲ heart rate Ⅲ obesity C onsidering socioeconomic characteristics is useful both in the clinical setting to improve risk stratification of patients at risk of hypertension and, from a public health perspective, to identify population-level determinants of blood pressure when defining interventions. 1 Regardless of the aim, recent studies suggest that a better assessment of socioeconomic differences in blood pressure may be obtained by considering social circumstances both at the individual level and at the residential neighborhood level. [2][3][4][5] To date, fewer studies have quantified neighborhood socioeconomic influences on blood pressure than on behavioral risk factors of cardiovascular diseases (smoking and physical inactivity) or obesity. 6 As recently emphasized, 7 knowledge useful for public health action is identifying the different mechanisms underlying associations between individual/neighborhood socioeconomic characteristics and blood pressure (eg, through known risk factors of hypertension) on which it would be possible to intervene to address social disparities in blood pressure. 1,8 However, on the one hand, the very few studies that investigated intermediate mechanisms throu...

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This study focuses on early parental preoccupations and behaviors (EPPB) surrounding the birth of a new family member. An interview instrument was developed to assess EPPB at eight months prepartum and two weeks and three months postpartum. Measures with adequate psychometric and conceptual properties were used to assess the overall level of parental preoccupations and associated actions as well as three content domains: caregiving (CARE), relationship building (RELATIONSHIP), and anxious intrusive thoughts associated with harm avoidant behaviors (AITHAB). The hypothesis that preoccupations and behaviors would peak for both parents close to the birth of the child was confirmed. Measures of EPPB were distinguished from symptoms of depression and generalized anxiety. Consistent with our a priori hypothesis the content and character of the AITHAB was found to resemble the symptoms of obsessive‐compulsive disorder (OCD). The study findings suggest the potential adaptive significance of EPPB and the possible evolutionary origins of OCD.