Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

Intellectual disability is a heterogeneous disorder with a wide phenotypic spectrum. Over 1,700 OMIM genes have been associated with this condition, many of which reside on the X-chromosome. The IQSEC2 gene is located on chromosome Xp11.22 and is known to play a significant role in the maintenance and homeostasis of the brain. Mutations in IQSEC2 have been historically associated with nonsyndromic X-linked intellectual disability. Case reports of affected probands show phenotypic overlap with conditions associated with pathogenic MECP2, FOXG1, CDKL5, and MEF2C gene mutations. Affected individuals, however, have also been identified as presenting with additional clinical features including seizures, autistic-behavior, psychiatric problems, and delayed language skills. To our knowledge, only 5 deleterious mutations and 2 intragenic duplications have been previously reported in IQSEC2. Here we report two novel IQSEC2 de novo truncating mutations identified through diagnostic exome sequencing in two severely affected unrelated male probands manifesting developmental delay, seizures, hypotonia, plagiocephaly, and abnormal MRI findings. Overall, diagnostic exome sequencing established a molecular diagnosis for two patients in whom traditional testing methods were uninformative while expanding on the mutational and phenotypic spectrum. In addition, our data suggests that IQSEC2 may be more common than previously appreciated, accounting for approximately 9 % (2/22) of positive findings among patients with seizures referred for diagnostic exome sequencing. Further, these data supports recently published data suggesting that IQSEC2 plays a more significant role in the development of X-linked intellectual disability with seizures than previously anticipated.     

Different early rearing experiences have long‐term effects on cortical organization in captive chimpanzees (Pan troglodytes)

Consequences of rearing history in chimpanzees (Pan troglodytes) have been explored in relation to behavioral abnormalities and cognition; however, little is known about the effects of rearing conditions on anatomical brain development. Human studies have revealed that experiences of maltreatment and neglect during infancy and childhood can have detrimental effects on brain development and cognition. In this study, we evaluated the effects of early rearing experience on brain morphology in 92 captive chimpanzees (ages 11–43) who were either reared by their mothers (n = 46) or in a nursery (n = 46) with age‐group peers. Magnetic resonance brain images were analyzed with a processing program (BrainVISA) that extracts cortical sulci. We obtained various measurements from 11 sulci located throughout the brain, as well as whole brain gyrification and white and grey matter volumes. We found that mother‐reared chimpanzees have greater global white‐to‐grey matter volume, more cortical folding and thinner grey matter within the cortical folds than nursery‐reared animals. The findings reported here are the first to demonstrate that differences in early rearing conditions have significant consequences on brain morphology in chimpanzees and suggests potential differences in the development of white matter expansion and myelination.     

Resilience to discrimination stress across ethnic identity stages of development

Ethnic identity development may increase resilience to discrimination and prejudice, which are often common and stressful for ethnic minority adolescents. Based on ethnic identity development theory and resilience theory, we hypothesize that under high discrimination stress, ethnic affirmation and ethnic identity stage will have protective moderating effects on self‐esteem and depressive symptoms. A cross‐sectional self‐report study with 125 ethnic minority adolescents (13–18 years) found that ethnic affirmation (p < .05) had protective effects on depressive symptoms (p < .05) and protective‐enhancing effects on self‐esteem at high levels of discrimination stress. Achieved ethnic identity stage (p < .05) had protective‐stabilizing effects on self‐esteem at high discrimination stress. Our findings demonstrate that the protective elements of ethnic identity are feeling positive about one's ethnic group, having learned about one's history, and having resolved conflicts about one's ethnic group.     

Examining Spirituality and Sense of Calling in Counseling Students

This study explored the link between counseling students’ spiritual well‐being and sense of calling to the profession. A final sample of 415 counseling students demonstrated significant spiritual well‐being (religious and existential) and a strong sense of calling to the counseling profession. Results also indicated that spiritual well‐being was predictive of students’ sense of calling to the profession. Implications for counselor training are discussed.     

Memory for surface features of unfamiliar melodies: independent effects of changes in pitch and tempo

A melody’s identity is determined by relations between consecutive tones in terms of pitch and duration, whereas surface features (i.e., pitch level or key, tempo, and timbre) are irrelevant. Although surface features of highly familiar recordings are encoded into memory, little is known about listeners’ mental representations of melodies heard once or twice. It is also unknown whether musical pitch is represented additively or interactively with temporal information. In two experiments, listeners heard unfamiliar melodies twice in an initial exposure phase. In a subsequent test phase, they heard the same (old) melodies interspersed with new melodies. Some of the old melodies were shifted in key, tempo, or key and tempo. Listeners’ task was to rate how well they recognized each melody from the exposure phase while ignoring changes in key and tempo. Recognition ratings were higher for old melodies that stayed the same compared to those that were shifted in key or tempo, and detrimental effects of key and tempo changes were additive in between-subjects (Experiment 1) and within-subjects (Experiment 2) designs. The results confirm that surface features are remembered for melodies heard only twice. They also imply that key and tempo are processed and stored independently.     

Ward v. Wilbanks: Students Respond

Ward v. Wilbanks is the most important legal case for the profession of counseling in the last 25 years. This qualitative research used general content analysis to examine master's‐level counseling students’ responses to the Ward v. Wilbanks case. Emergent themes from data analysis include (a) the role of gatekeeping; (b) Julea Ward and Eastern Michigan University: inflexible and uncompromising; (c) Ward v. Wilbanks: confusion, complexity, and certainty; and (d) personal values, professional values, and the ACA Code of Ethics (American Counseling Association, 2005 ).     

Young Offenders’ Emotion Recognition Dysfunction Across Emotion Intensities: Explaining Variation Using Psychopathic Traits,Conduct Disorder and Offense Severity

Antisocial individuals have problems recognizing negative emotions (e.g. Marsh & Blair in Neuroscience and Biobehavioral Reviews 32:454–465, 2009); however, due to issues with sampling and different methods used, previous findings have been varied. Sixty-three male young offenders and 37 age-, IQ- and socio-economic status-matched male controls completed a facial emotion recognition task, which measures recognition of happiness, sadness, fear, anger, disgust, and surprise and neutral expressions across 4 emotional intensities. Conduct disorder (YSR), and psychopathic and callous/unemotional traits (YPI) were measured, and offenders’ offense data were taken from the Youth Offending Service’s case files. Relative to controls, offenders were significantly worse at identifying sadness, low intensity disgust and high intensity fear. A significant interaction for anger was also observed, with offenders showing reduced low- but increased high-intensity anger recognition in comparison with controls. Within the young offenders levels of conduct disorder and psychopathic traits explained variation in sadness and disgust recognition, whereas offense severity explained variation in anger recognition. These results suggest that antisocial youths show specific problems in recognizing negative emotions and support the use of targeted emotion recognition interventions for problematic behavior.     

Parent-Child Interaction Therapy for ADHD: A Conceptual Overview and Critical Literature Review

ABSTRACT

Attention-Deficit/Hyperactivity Disorder (ADHD), a chronic disorder beginning in childhood, is identifiable and diagnostically valid during the preschool years. Compared to school-aged children, preschoolers have not received as much attention in the literature. Parent-Child Interaction Therapy (PCIT) is an empirically-supported parent training program for young children with disruptive behaviors that may also be effective in treating ADHD. The purpose of the current article was to explore the theoretical rationale for utilizing PCIT with this population and to conduct a literature review of published PCIT treatment outcome studies that measured ADHD symptoms. The literature demonstrates that children with ADHD have been included in PCIT research and evidence suggests that PCIT may be effective for young children with ADHD. However, future research is needed to specifically examine the effects of PCIT on ADHD.     

Decreasing Self-Injurious Behavior in a Student with Autism and Tourette Syndrome through Positive Attention and Extinction

This case study was conducted with a student diagnosed with autism and Tourette syndrome who displayed severe self-injurious behavior (SIB). We conducted a functional behavioral assessment which indicated that SIB was maintained by multiple functions using an ABAC design to determine the effect of positive social attention and extinction. Results show a considerable decrease in SIB incidents, particularly when session duration was reduced from 10 minutes to 5 minutes during the second intervention phase. Thus, the combination of contingent social attention formulated from the functional assessment and extinction was successful in bringing about significant decreases in SIB. This combination holds great promise as a nonintrusive positive strategy for SIB.     

Illegitimate concept equating in the partial fusion of construct validation theory and latent variable modeling

There has come to exist a partial fusion of construct validation theory and latent variable modeling at the center of which is located a practice of equating concepts such as construct, factor, latent variable, concept, unobservable, unmeasurable, underlying, hypothetical variable, theoretical term, theoretical variable, intervening variable, cause, abstractive property, functional unity, and measured property. In the current paper we: a) provide a structural explanation of this concept equating; b) provide arguments to the effect that it is illegitimate; c) suggest that the singular reason for the presence of construct in the literature of the social and behavioral sciences is to mark an allowance taken by the social and behavioral scientist to obliterate the concept/referent distinction that is foundational of sound science.