David W. Evans

Early parental preoccupations and behaviors and their possible relationship to the symptoms of obsessive-compulsive disorder

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.

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.

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.

The Rituals, Fears and Phobias of Young Children: Insights from Development, Psychopathology and Neurobiology

This study examined the relationship between ritualistic, compulsive-like behaviors and normative fears and phobias in 61 children ranging from 1 to 7 years of age. Parents reported on their childrens ritualistic habits, and perfectionistic behaviors that reflect what we have previously called “compulsive-like” behaviors. Parents also reported on their childrens fears and phobias. Results indicated that various aspects of childrens ritualistic and compulsive-like behaviors are correlated with childrens fears and phobias. Developmental differences existed such that younger childrens (< 4 years) repetitive, compulsive-like behaviors were related to “prepotent” fears such as stranger and separation anxieties, whereas the compulsive-like behaviors of older children (> 4 years) were correlated with more specific, “contextual” fears such as fears of contamination, death, and fears often associated with concerns of the inner city such as burglars, assault, etc. These findings are discussed in terms of the phenomenologic and possible neurobiological continuities between normative and pathologic rituals, fears and phobias.

The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions

IMPORTANCE Most disorders caused by copy number variants (CNVs) display significant clinical variability, often referred to as incomplete penetrance and variable expressivity. Genetic and environmental sources of this variability are not well understood. OBJECTIVES To investigate the contributors to phenotypic variability in probands with CNVs involving the same genomic region; to measure the effect size for de novo mutation events; and to explore the contribution of familial background to resulting cognitive, behavioral, and motor performance outcomes in probands with de novo CNVs. DESIGN, SETTING, AND PARTICIPANTS Family-based study design with a volunteer sample of 56 individuals with de novo 16p11.2 deletions and their noncarrier parents and siblings from the Simons Variation in Individuals Project. MAIN OUTCOMES AND MEASURES We used linear mixed-model analysis to measure effect size and intraclass correlation to determine the influence of family background for a de novo CNV on quantitative traits representing the following 3 neurodevelopmental domains: cognitive ability (Full-Scale IQ), social behavior (Social Responsiveness Scale), and neuromotor performance (Purdue Pegboard Test). We included an anthropometric trait, body mass index, for comparison. RESULTS A significant deleterious effect of the 16p11.2 deletion was demonstrated across all domains. Relative to the biparental mean, the effect sizes were -1.7 SD for cognitive ability, 2.2 SD for social behavior, and -1.3 SD for neuromotor performance (P < .001). Despite large deleterious effects, significant positive correlations between parents and probands were preserved for the Full-Scale IQ (0.42 [P = .03]), the verbal IQ (0.53 [P = .004]), and the Social Responsiveness Scale (0.52 [P = .009]) scores. We also observed a 1-SD increase in the body mass index of probands compared with siblings, with an intraclass correlation of 0.40 (P = .07). CONCLUSIONS AND RELEVANCE Analysis of families with de novo CNVs provides the least confounded estimate of the effect size of the 16p11.2 deletion on heritable, quantitative traits and demonstrates a 1- to 2-SD effect across all neurodevelopmental dimensions. Significant parent-proband correlations indicate that family background contributes to the phenotypic variability seen in this and perhaps other CNV disorders and may have implications for counseling families regarding their childrens developmental and psychiatric prognoses. Use of biparental mean scores rather than general population mean scores may be more relevant to examine the effect of a mutation or any other cause of trait variation on a neurodevelopmental outcome and possibly on systems of diagnosis and trait ascertainment for developmental disorders.

Magical beliefs and rituals in young children.

Thirty-one children were administered a structured interview that assessed their beliefs about magic, tricks and wishes. Children were also presented with demonstrations of magic tricks/illusions, and asked to offer explanations as to how they worked. Parents completed the Childhood Routines Inventory (CRI), a 19-item parent report measure that assesses childrens rituals, habits and sensory-perceptual experiences that we have termed “compulsive-like” behavior. Results indicated that childrens rituals and compulsions were positively related to their magical beliefs, and inversely related to their uses of concrete, physical explanations to describe various phenomena. In particular, childrens beliefs about the effects of wishing were most consistently correlated with their compulsive-like rituals and routines. The findings extended the work on magical beliefs and obsessive-compulsive phenomena to the normative manifestation of compulsive behaviors found in typical development.

Clinical phenotype of the recurrent 1q21.1 copy-number variant

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.Genet Med 18 4, 341–349.

Perseveration on a reversal-learning task correlates with rates of self-directed behavior in nonhuman primates.

In humans and several nonhuman animals, repetitive behavior is associated with deficits on executive function tasks involving response inhibition. We tested for this relationship in nonhuman primates by correlating rates of normative behavior to performance on a reversal-learning task in which animals were required to inhibit a previously learned rule. We focused on rates of self-directed behavior (scratch, autogroom, self touch and manipulation) because these responses are known indicators of arousal or anxiety in primates, however, we also examined rates of other categories of behavior (e.g., locomotion). Behavior rates were obtained from 14 animals representing three nonhuman primate species (Macaca silenus, Saimiri sciureus, Cebus apella) living in separate social groups. The same animals were tested on a reversal-learning task in which they were presented with a black and a grey square on a touch screen and were trained to touch the black square. Once animals learned to select the black square, reward contingencies were reversed and animals were rewarded for selecting the grey square. Performance on the reversal-learning task was positively correlated to self-directed behavior in that animals that exhibited higher rates of self-directed behavior required more trials to achieve reversal. Reversal learning was not correlated to rates of any other category of behavior. Results indicate that rates of behavior associated with anxiety and arousal provide an indicator of executive function in nonhuman primates. The relationship suggests continuity between nonhuman primates and humans in the link between executive functioning and repetitive behavior.

Self-complexity and its relation to development, symptomatology and self-perception during adolescence

Self-complexity refers to the degree to which various aspects of self-concept are differentiated from each other. A new measure of self-complexity (the SCI) was administered to 182 adolescents. The SCI correlated positively with chronological age and global self-worth and was negatively related to internalizing and externalizing symptoms. Regression analyses indicated that the SCI was the best predictor of depression when holding global self-worth constant.

The mysterious myth of attention deficits and other defect stories: Contemporary issues in the developmental approach to mental retardation

Summary We began this article with brief overview of the theoretical and methodological shortcomings that led to the decades-old myth of attentional deficit as central to mental retardation. We presented a reanalysis of the available data and suggested that no empirical evidence supports any relationship between attention deficits and mental retardation per se, although available data is certainly not definitive with regard to this question. Furthermore, we suggested that certain attentional deficits may be associated with specific etiological groups. This review of research on attention among persons with mental retardation provided the context for a review of historical landmarks and contemporary innovations and issues in the developmental approach to the study of persons with mental retardation. This framework is clearly not problem-free, but its contributions to increased precision and sophistication in theory, methodology, and interpretation are essential to the study of persons with mental retardation. As compared to other approaches, the developmental one is limiting as it generally necessitates the use of more resources in the study of smaller groups, but is necessary for increased accuracy and precision in empirical findings. Greater awareness of developmental issues will inevitably lead to an increasingly heuristic and collaborative approach to research in which studies will be designed to complement one onother. Ultimately, the products of these collaborations will provide information that is optimally helpful to persons with mental retardation, their families, and those who work with them.

Adaptive and Maladaptive Correlates of Repetitive Behavior and Restricted Interests in Persons with Down Syndrome and Developmentally-Matched Typical Children: A Two-Year Longitudinal Sequential Design

We examined the course of repetitive behavior and restricted interests (RBRI) in children with and without Down syndrome (DS) over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA) levels: “younger” 2–4 years; “older” 5–11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales) in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist) at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior.