Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth retardation occurs both intrauterine and postnatal. Behavioral characteristics include hyperactivity, short attention span, and aggressiveness. Behavior problems include difficulty feeding, sleep disturbance, and bedwetting. Individuals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. Deficits have been found in speech and language skills, reasoning and memory skills, self-help skills, and psychomotor functioning. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological medical difficulties have been noted. Approximately 148 cases have been described in the literature. The cause of the disorder remains unknown, however, research suggests genetic origin. Past research emphasizes physical characteristics and medical complications. There is a lack of cognitive, behavioral, and psychological information available regarding the disorder. This article presents a review of the literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz syndrome

Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features

Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth retardation occurs both intrauterine and postnatal. Behavioral characteristics include hyperactivity, short attention span, and aggressiveness. Behavior problems include difficulty feeding, sleep disturbance, and bedwetting. Individuals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. Deficits have been found in speech and language skills, reasoning and memory skills, self-help skills, and psychomotor functioning. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological medical difficulties have been noted. Approximately 148 cases have been described in the literature. The cause of the disorder remains unknown, however, research suggests genetic origin. Past research emphasizes physical characteristics and medical complications. There is a lack of cognitive, behavioral, and psychological information available regarding the disorder. This article presents a review of the literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz syndrome

Teacher Support as a Moderator of Behavioral Outcomes for Youth Exposed to Stressful Life Events

The present study examined the relationship between teacher support, life stress, and behavioral outcomes in 103 youth. Participants completed questionnaires regarding life events, social support, personality, and behavior. Moderated regression analyses were conducted using youth perceptions of teacher support and negative life events to predict externalizing and internalizing problems. Results revealed a significant interaction between teacher support and life stress, indicating teacher support successfully moderated the effect of stress on externalizing problems. Main effects for life stress were consistent with previous literature suggesting that higher amounts of stress predict greater externalizing and internalizing problems. Implications for teacher support are discussed

Relationship between Altitude and Lithium in Groundwater in the United States of America: Results of a 1992–2003 Study

Therapeutic dosages of lithium are known to reduce suicide rates, which has led to investigations of confounding environmental risk factors for suicide such as lithium in groundwater. It has been speculated that this might play a role in the potential relationship between suicide and altitude. A recent study in Austria involving geospatial analysis of lithium in groundwater and suicide found lower levels of lithium at higher altitudes. Since there is no reason to suspect this correlation is universal given variation in geology, the current study set out to investigate the relationship between altitude and lithium in groundwater in the United States of America (USA). The study utilised data extracted from the National Water-Quality Assessment programme implemented by the United States Geological Survey that has collected 5,183 samples from 48 study areas in USA for the period of 1992 to 2003. Lithium was the trace-element of interest and 518 samples were used in the current analyses. Due to uneven lithium sampling within the country, only the states (n=15) with the highest number of lithium samples were included. Federal information processing standard codes were used to match data by county with the mean county altitude calculated using altitude data from the Shuttle Radar Topography Mission. The study was controlled for potential confounding factors known to affect levels of lithium in groundwater including aquifer, aquifer type, lithology, water level and the depths of wells. The levels of lithium in groundwater, increased with altitude (R2 = 0.226, P \u3c0.001) during the study period. These findings differ from the Austrian study and suggest a need for further research accounting also for the impact of geographical variation

Toward Sustainable Environmental Quality : Priority Research Questions for Asia

Environmental and human health challenges are pronounced in Asia, an exceptionally diverse and complex region where influences of global megatrends are extensive and numerous stresses to environmental quality exist. Identifying priorities necessary to engage grand challenges can be facilitated through horizon scanning exercises, and to this end we identified and examined 23 priority research questions needed to advance toward more sustainable environmental quality in Asia, as part of the Global Horizon Scanning Project. Advances in environmental toxicology, environmental chemistry, biological monitoring, and risk-assessment methodologies are necessary to address the adverse impacts of environmental stressors on ecosystem services and biodiversity, with Asia being home to numerous biodiversity hotspots. Intersections of the food–energy–water nexus are profound in Asia; innovative and aggressive technologies are necessary to provide clean water, ensure food safety, and stimulate energy efficiency, while improving ecological integrity and addressing legacy and emerging threats to public health and the environment, particularly with increased aquaculture production. Asia is the largest chemical-producing continent globally. Accordingly, sustainable and green chemistry and engineering present decided opportunities to stimulate innovation and realize a number of the United Nations Sustainable Development Goals. Engaging the priority research questions identified herein will require transdisciplinary coordination through existing and nontraditional partnerships within and among countries and sectors. Answering these questions will not be easy but is necessary to achieve more sustainable environmental quality in Asia. Environ Toxicol Chem 2020;39:1485–1505

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Correspondence Between Perceived Pubertal Development and Hormone Levels in 9-10 Year-Olds From the Adolescent Brain Cognitive Development Study.

Aim: To examine individual variability between perceived physical features and hormones of pubertal maturation in 9-10-year-old children as a function of sociodemographic characteristics. Methods: Cross-sectional metrics of puberty were utilized from the baseline assessment of the Adolescent Brain Cognitive Development (ABCD) Study—a multi-site sample of 9–10 year-olds (n = 11,875)—and included perceived physical features via the pubertal development scale (PDS) and child salivary hormone levels (dehydroepiandrosterone and testosterone in all, and estradiol in females). Multi-level models examined the relationships among sociodemographic measures, physical features, and hormone levels. A group factor analysis (GFA) was implemented to extract latent variables of pubertal maturation that integrated both measures of perceived physical features and hormone levels. Results: PDS summary scores indicated more males (70%) than females (31%) were prepubertal. Perceived physical features and hormone levels were significantly associated with child\u27s weight status and income, such that more mature scores were observed among children that were overweight/obese or from households with low-income. Results from the GFA identified two latent factors that described individual differences in pubertal maturation among both females and males, with factor 1 driven by higher hormone levels, and factor 2 driven by perceived physical maturation. The correspondence between latent factor 1 scores (hormones) and latent factor 2 scores (perceived physical maturation) revealed synchronous and asynchronous relationships between hormones and concomitant physical features in this large young adolescent sample. Conclusions: Sociodemographic measures were associated with both objective hormone and self-report physical measures of pubertal maturation in a large, diverse sample of 9-10 year-olds. The latent variables of pubertal maturation described a complex interplay between perceived physical changes and hormone levels that hallmark sexual maturation, which future studies can examine in relation to trajectories of brain maturation, risk/resilience to substance use, and other mental health outcomes

Understanding the Neuropsychology of Autism Spectrum Disorders In Men

Men in the general population exhibit more autistic traits than women. In a study of autistic traits in adults with normal intelligence, Baron-Cohen and colleagues found that, among control subjects without autism spectrum disorder (ASD), twice as many men as women had elevated scores on an autism screener, the Autism Spectrum Quotient (AQ) (Baron-Cohen, Wheelwright, Skinner, Martin, & Clubley, Journal of Autism and Developmental Disorders, 36(1), 5–17, 2001). While only 4 % of male controls in their study scored at the highest level on the screening measure, none of the women scored as high, even women who were later diagnosed with ASD (i.e., Autistic Disorder, Asperger’s Disorder, or Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS). A preponderance of males with ASD have been observed since Leo Kanner wrote his seminal article about autism in 1943, and a year later Hans Asperger published an article describing the autistic personality as an extreme variant of male intelligence or character (Kanner, Nervous Child, 2, 217–250, 1943; Asperger, Archiv fur Psychiatrie and Nervenkrankheiten, 117(1), 76–136, 1944). More than five decades later, Baron-Cohen and Hammer (Advances in Infancy Research, 11, 193–217, 1997) posited the Extreme Male Brain (EMB) theory of autism. The EMB theory states that the male proclivity for precision, logical thinking, and analysis is consistent with the preference for predictable rule-governed systems such as mathematics and fact memorization. Similarly, individuals with ASD have little interest in unpredictable or ambiguous situations such as social systems. Clearly, males and individuals with ASD have shown a preference for science, engineering, and technology. A survey of Cambridge University undergraduate students majoring in the sciences (e.g., science, engineering, and mathematics) revealed six times as many family relatives with ASD when compared to humanity majors (e.g., English, French literature) (Baron-Cohen et al., Autism, 2, 296–301, 1998). Gender differences in social cognition, emotional expression, and perception continue to support the EMB theory of autism. Recent research has shown that males and females with ASD differ both neuropsychologically and behaviorally. Symptoms of ASD and the degree of symptom severity may be manifested differently in males and females. Furthermore, males and females with ASD vary in areas of social cognition and executive functioning. Therefore, gender considerations may have important implications for assessment and treatment of individuals with ASD. In this chapter, issues related to ASD in males will be presented, including symptom manifestation, prevalence and comorbidity, neuropsychological underpinnings, long-term outcomes, and implications for assessment, treatment, education, and vocatio

Persistent and distressing psychotic-like experiences using adolescent brain cognitive development℠ study data

Childhood psychotic-like experiences (PLEs) are associated with a range of impairments; a subset of children experiencing PLEs will develop psychiatric disorders, including psychotic disorders. A potential distinguishing factor between benign PLEs versus PLEs that are clinically relevant is whether PLEs are distressing and/or persistent. The current study used three waves of Adolescent Brain Cognitive Development℠ (ABCD) study PLEs assessments to examine the extent to which persistent and/or distressing PLEs were associated with relevant baseline risk factors (e.g., cognition) and functioning/mental health service utilization domains. Four groups varying in PLE persistence and distress endorsement were created based on all available data in ABCD Release 3.0, with group membership not contingent on complete data: persistent distressing PLEs (n = 272), transient distressing PLEs (n = 298), persistent non-distressing PLEs (n = 221), and transient non-distressing PLEs (n = 536) groups. Using hierarchical linear models, results indicated youth with distressing PLEs, whether transient or persistent, showed delayed developmental milestones (β = 0.074, 95%CI:0.013,0.134) and altered structural MRI metrics (β = -0.0525, 95%CI:-0.100,-0.005). Importantly, distress interacted with PLEs persistence for the domains of functioning/mental health service utilization (β = 0.079, 95%CI:0.016,0.141), other reported psychopathology (β = 0.101, 95%CI:0.030,0.170), cognition (β = -0.052, 95%CI:0.-0.099,-0.002), and environmental adversity (β = 0.045, 95%CI:0.003,0.0.86; although no family history effects), with the interaction characterized by greatest impairment in the persistent distressing PLEs group. These results have implications for disentangling the importance of distress and persistence for PLEs with regards to impairments, including functional, pathophysiological, and environmental outcomes. These novel longitudinal data underscore that it is often only in the context of distress that persistent PLEs were related to impairments