Hyperspectral Imaging and Machine Learning as a Nondestructive Method for Proso Millet Seed Detection and Classification.

Millet is a small-seeded cereal crop with big potential. There are many different cultivars of proso millet (Panicum miliaceum L.) with different characteristics, bringing forth the issue of sorting which are important for growers, processors, and consumers. Current methods of grain cultivar detection and classification are subjective, destructive, and time-consuming. Therefore, there is a need to develop nondestructive methods for sorting the cultivars of proso millet. In this study, the feasibility of using near-infrared (NIR) hyperspectral imaging (900-1700 nm) to discriminate between different cultivars of proso millet seeds was evaluated. A total of 5000 proso millet seeds were randomly obtained and investigated from the ten most popular cultivars in the United States, namely Cerise, Cope, Earlybird, Huntsman, Minco, Plateau, Rise, Snowbird, Sunrise, and Sunup. To reduce the large dimensionality of the hyperspectral imaging, principal component analysis (PCA) was applied, and the first two principal components were used as spectral features for building the classification models because they had the largest variance. The classification performance showed prediction accuracy rates as high as 99% for classifying the different cultivars of proso millet using a Gradient tree boosting ensemble machine learning algorithm. Moreover, the classification was successfully performed using only 15 and 5 selected spectral features (wavelengths), with an accuracy of 98.14% and 97.6%, respectively. The overall results indicate that NIR hyperspectral imaging could be used as a rapid and nondestructive method for the classification of proso millet seeds.

Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting.

The introduction of cell-free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to evaluate genetic counselor experiences disclosing SCAs positive prenatal screening or testing results and genetic counselor-reported parental questions regarding sex, gender, and sexual orientation. Forty-eight prenatal genetic counselors completed the survey. When asked to quantify their experiences, 97.9% of counselors reported disclosing a SCAs positive screen result within the previous year, and 81.3% disclosed a diagnostic result. Of those counselors, 53.8% reported always or often receiving parental questions about sex, 33% always or often about gender, and 25% always or often regarding sexual orientation. Counselors were asked to share examples of parental questions following a positive screen or diagnostic testing for SCAs. Parental questions were stratified by karyotype and content analysis revealed questions about the fetus' sex, anatomy, reproduction, being cisgender, gender expression, behavior, being transgender, and sexual orientation. The examples of parental questions provided by genetic counselors suggested some parents may have misconceptions about the intersection of SCAs with sex, gender, and sexual orientation following prenatal screening or diagnostic testing. The majority of counselors (83.3%) agreed to some extent that they desired further education on responding to parental questions about SCAs. Findings from this research suggest a need for genetic counseling strategies that accurately and respectfully discuss SCAs in the context of sex, gender, and sexual orientation with prenatal patients.

Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland.

BACKGROUND: Congenital adrenal hyperplasia (CAH) encompasses a rare group of autosomal recessive disorders, characterised by enzymatic defects in steroidogenesis. Heterogeneity in management practices has been observed internationally. The International Congenital Adrenal Hyperplasia registry (I-CAH, https://sdmregistries.org/) was established to enable insights into CAH management and outcomes, yet its global adoption by endocrine centres remains unclear. DESIGN: We sought (1) to assess current practices amongst clinicians managing patients with CAH in the United Kingdom and Ireland, with a focus on choice of glucocorticoid, monitoring practices and screening for associated co-morbidities, and (2) to assess use of the I-CAH registry. MEASUREMENTS: We designed and distributed an anonymised online survey disseminated to members of the Society for Endocrinology and Irish Endocrine Society to capture management practices in the care of patients with CAH. RESULTS: Marked variability was found in CAH management, with differences between general endocrinology and subspecialist settings, particularly in glucocorticoid use, biochemical monitoring and comorbidity screening, with significant disparities in reproductive health monitoring, notably in testicular adrenal rest tumours (TARTs) screening (p = .002), sperm banking (p = .0004) and partner testing for CAH (p < .0001). Adoption of the I-CAH registry was universally low. CONCLUSIONS: Differences in current management of CAH continue to exist. It appears crucial to objectify if different approaches result in different long-term outcomes. New studies such as CaHASE2, incorporating standardised minimum datasets including replacement therapies and monitoring strategies as well as longitudinal data collection, are now needed to define best-practice and standardise care.

Clinical Utility of GnRH Analogues in Female Androgen Excess: Highlighting Diagnostic and Therapeutic Applications.

Female androgen excess typically presents with hirsutism, acne, and frontotemporal alopecia. Although the majority of cases are due to underlying polycystic ovary syndrome, non-polycystic ovary syndrome pathology can present a diagnostic and therapeutic challenge. We present 3 cases highlighting the utility of GnRH analogues in diagnosis and treatment of ovarian hyperandrogenism. In case 1, we highlight the role of GnRH analogue testing to localize severe postmenopausal androgen excess, allowing full resolution of symptoms following resection of a benign ovarian steroid-cell tumor. Our second case demonstrates the dual utility of GnRH analogues as both a diagnostic and therapeutic agent for hyperandrogenism in a premenopausal woman with severe insulin resistance. We observed suppression of serum testosterone coupled with significant improvement in hirsutism scores. The final case describes GnRH analogue suppression as a therapeutic option for a postmenopausal woman with ovarian hyperthecosis wishing to avoid surgical intervention, with successful symptom resolution. This case series delineates the applications of GnRH analogue suppression in a variety of clinical contexts, in particular their potential role in controlling symptoms in cases of refractory androgen excess and an alternative to surgery in cases of benign ovarian hyperandrogenism.

Group meditation, addressing stigma, and "mental health days": Recommendations for integrating self-awareness practices into genetic counseling graduate programs.

Genetic counseling graduate programs provide a rigorous curriculum comprised of coursework encompassing counseling and medical genetics, fieldwork, and research experience. Students face similar emotional and mental demands as practicing genetic counselors while also experiencing stressors commonly associated with graduate study. Increased self-awareness may help combat these stressors. This mixed-methods study surveyed 154 genetic counseling graduate students to determine the types of self-awareness practices they would like to have included in their graduate training and surveyed 11 program faculty regarding the feasibility of implementing these practices. The students' most preferred practices were self-reflection (n = 73, 47.4%), support from peers, colleagues, and/or supervisors (n = 71, 46.1%), and mental health counseling (n = 71, 46.1%). Analysis of responses to open-ended questions capturing students' recommendations for programs yielded six recurrent themes: (1) Consistent, Structured Practice with Accountability, (2) Emphasis on Mental Health, (3) Practical Techniques, (4) Access to Resources, (5) Encouragement and Support, and (6) Barriers to Implementation. Many students suggested that programs should incorporate repetitive exercises that could be implemented on a schedule with an emphasis on consistency (Theme 1). Students also emphasized the importance of providing exposure to multiple examples of self-awareness practices, so they could find an approach that was most beneficial on an individual basis (Theme 3). These findings were shared with program faculty via a presentation at the Association for Genetic Counseling Program Directors annual meeting, and attendees were subsequently surveyed regarding self-awareness practices currently integrated into their curriculum, as well as the feasibility and likelihood of integrating new practices. Program faculty respondents indicated that most of the recommended practices were included in their curriculum already or would be feasible and likely to incorporate. These results provide insight into the attitudes of genetic counseling students toward structured practice in self-awareness and how genetic counseling graduate programs might integrate such practices into the curriculum.

Disclosure and comfort during genetic counseling sessions with LGBTQ+ patients: An updated assessment.

Disclosure is the act of sharing a stigmatized identity, and members of the LGBTQ+ community make decisions related to disclosure multiple times throughout their life. Disclosure in medical settings can impact perceptions of care and outcomes for LGBTQ+ patients; however, little is understood about the process of decision-making regarding disclosure in the genetic counseling setting. As such, this study aimed to explore LGBTQ+ experiences in genetic counseling sessions and their disclosure behaviors. Fifty-five LGBTQ+ individuals who attended a genetic counseling session and 91 genetic counselors completed online surveys. The patient survey assessed for disclosure behaviors, experiences of discrimination, and comfort in genetic counseling sessions. The counselor survey evaluated comfort with the LGBTQ+ population in a counseling setting, whether counselors facilitate disclosure in sessions, and whether counseling is tailored for the LGBTQ+ population. Eighty-two percent of genetic counselors "rarely" or "never" ask about sexual orientation, and 69% "rarely" or "never" ask about gender identity. The majority of patients indicated they were not asked about their sexual orientation (87%) or gender identity (80%). Some patients reported experiencing discrimination or homo/transphobia in their genetic counseling sessions, with 6.12% of LGBQ+ patients experiencing discrimination and 24.1% of trans+ patients reporting discrimination. Over half of genetic counselors reported receiving training in LGBTQ+ healthcare and the majority reported comfort with providing care to LGBTQ+ patients. However, discrepancies between patient-reported experiences and genetic counselors' descriptions of their care for the LGBTQ+ population warrant further research and suggest additional training or changes in practice may be necessary.

CT imaging for occult malignancy in patients with unprovoked venous thromboembolism (VTE) in a tertiary centre: is it worthwhile?

BACKGROUND: Investigating patients with unprovoked venous thromboembolism (uVTE) for occult malignancy can prove a diagnostic dilemma and imaging is often used extensively in this patient group. AIMS: The primary objective of this study was to determine the incidence of malignancy on CT and other imaging over a 10-year period. A secondary objective was to evaluate the role of laboratory and other non-imaging tests performed. METHODS: A retrospective key word search of our hospital's imaging system was performed to identify patients with unprovoked DVT/PE over the last 10 years. All imaging, histology, endoscopy, laboratory tests, and clinical follow-up over 2 years were analysed. Patients with provoked VTE were excluded. RESULTS: 150 patients had uVTE. 9 patients were diagnosed with occult malignancy by different investigations on index hospital admission (3 patients) or subsequently on clinical follow-up (6 patients). Mean age of patients was 62 years. 116 patients had CT body imaging. The incidence of malignancy diagnosed by initial CT imaging was 1.7% with a sensitivity of 22%, specificity 87%, and PPV 12.5%. Overall incidence of malignancy identified by imaging alone during the index hospital admission was 2%. Total incidence of malignancy including index admission and follow-up was 6%. Median time to cancer diagnosis was 12 months. CONCLUSION: CT imaging had a low yield for diagnosing malignancy. Extensive imaging strategies increase cost and radiation exposure without improving mortality. Clinical follow-up, history taking, and physical examination guiding appropriate investigations remain the best tool for unmasking occult malignancy in patients with uVTE.

Something to chat about: An analysis of genetic counseling via asynchronous messaging following direct-to-consumer genetic testing.

Advances in technology, decreasing cost of genetic testing, and growing public interest in genetics marked by an increased uptake of genetic testing, particularly direct-to-consumer genetic testing (DTC-GT), have led to an overwhelming demand for genetic counseling services. As such, various alternative service delivery models have been proposed to increase access to genetic counseling. Some service delivery models, such as asynchronous messaging, remain unexplored in the genetic counseling literature. The purpose of this study was to assess communication during genetic counseling for DTC-GT through asynchronous messaging. A thematic analysis was conducted on 34 de-identified chat transcripts between genetic counselors and clients who underwent DTC-GT. Six categories of communication were identified and were grouped based on communication sources from either the client or the genetic counselor. Categories observed in client communication were motivations for seeking DTC testing and/or genetic counseling services, questions posed to the genetic counselor, responses provided during the session, and psychosocial aspects of the session related to the clients' mental, emotional, social, and spiritual needs. Categories of communication that emerged from the genetic counselors' communications were educational aspects of the session and counseling strategies to address concerns that are not related to educational or informational needs. Most clients had specific questions about variants detected or specific conditions. Many clients asked about appropriate subsequent steps related to additional testing or medical management. Genetic counselors discussed the limitations of DTC-GT and recommendations for clinical grade testing in almost all chat transcripts. In several chats, the genetic counselor provided advice to the client related to minimizing time sorting through likely benign results and refraining from altering medical management. Results suggest that genetic counselors are able to provide genetic information to clients and respond to their mental and emotional needs through asynchronous chat following DTC-GT. Findings from this study provide initial insight into a unique genetic counseling delivery model and reveal the informational and counseling needs of clients following DTC-GT.

Critical components of genomic medicine practice for non-genetics healthcare professionals: Genetic counselors' perspectives and implications for medical education.

Genetic services are increasingly provided by non-genetics healthcare professionals (NGHPs) with minimal formal training in genetics/genomics. Research demonstrates gaps in knowledge and clinical practices in genetics/genomics among NGHPs, but there is a lack of consensus on the specific knowledge needed by NGHPs to effectively provide genetic services. As clinical genetics professionals, genetic counselors (GCs) have insight into the critical components of genetics/genomics knowledge and practices needed by NGHPs. This study explored GCs' beliefs regarding whether NGHPs should provide genetic services and identified GCs' perceptions of the components of knowledge and clinical practice in genetics/genomics that are most critical for NGHPs providing genetic services. Two hundred and forty GCs completed an online quantitative survey with 17 participating in a follow-up qualitative interview. Descriptive statistics and cross-comparisons were generated for survey data. Interview data were analyzed using an inductive qualitative method for cross-case analysis. Most GCs disagreed with NGHPs providing genetic services, but beliefs varied widely, ranging from disagreement due to perceived gaps in knowledge or clinical skills to acceptance of NGHPs providing genetic services due to limited access to genetics professionals. Across survey and interview data, GCs endorsed the interpretation of genetic test results, understanding implications of results, collaboration with genetics professionals, knowledge of the risks and benefits to testing, and recognizing indications for genetic testing as critical components of knowledge and clinical practice for NGHPs. Several recommendations for improving the provision of genetic services were provided by respondents including educating NGHPs to provide genetic services through case-based continuing medical education and increasing collaboration between NGHPs and genetics professionals. As GCs are healthcare providers with experience and vested interests in educating NGHPs, their perspectives can help inform the creation of continuing medical education to ensure patients' access to high-quality genomic medicine care from providers of varying backgrounds.

Speech and Swallowing Outcomes Following Surgical Resection with Immediate Free Tissue Transfer Reconstruction for Advanced Osteoradionecrosis of the Mandible Following Radiation Treatment for Head and Neck Cancer.

Despite recent advances in the radiation techniques used for the treatment of head and neck cancer (HNC) including intensity-modulated radiotherapy (IMRT), mandibular osteoradionecrosis (ORN) remains a significant complication. Advanced stage ORN is managed surgically with resection and immediate free tissue transfer reconstruction. An evaluation of the functional speech and swallowing outcomes was undertaken for patients undergoing surgical management of advanced ORN. We retrospectively reviewed consecutive patients, at a single, tertiary cancer centre, who underwent surgical resection for advanced Notani grade III ORN. Outcomes investigated included use and duration of tracheostomy and swallowing and speech status using Performance Status Scale for Head and Neck Cancer Normalcy of Diet (PSS-NOD) and Understandability of Speech (PSS-Speech) at baseline and 3 months following surgery. Ten patients underwent surgical resection with free tissue transfer reconstruction between January 2014 and December 2019. Two patients required supplemental nutrition via a gastrostomy at three months post surgery. As per the PSS-NOD data half of the patients' (n = 5) diet remained stable (n = 2) or improved (n = 3) and half of the participants experienced a decline in diet (n = 5). The majority of patients had no speech difficulties at baseline (n = 8). The majority of patients' speech remained stable (n = 8) with two patients experiencing a deterioration in speech clarity following surgery. Well-designed studies with robust, sensitive multidimensional dysphagia and communication assessments are required to fully understand the impact of surgical management of advanced ORN using resection with free tissue transfer reconstruction.

Building a foundation in self-awareness: Genetic counseling students' experiences with self-care, reflection, and mindfulness.

Stress and anxiety are significant concerns for practicing genetic counselors as well as genetic counseling students and can have downstream effects on patient care. Prior research suggests graduate-level training in self-awareness practices such as self-care, reflection, and mindfulness could have lasting effects for genetic counselors, their patients, and the profession as a whole. This mixed-methods study assessed self-awareness among 154 genetic counseling graduate students using the Self-Reflection and Insight Scale (SRIS), the Mindfulness Attention Awareness Scale (MAAS), and self-described experiences with self-awareness practice. Genetic counseling students had significantly lower mean scores on the MAAS and the Insight subscale of the SRIS compared with other health professionals, indicating that genetic counseling students have lower levels of mindfulness and may lack insight into their thoughts and feelings. After starting genetic counseling graduate programs, students were more likely to reduce participation in active self-awareness practices such as physical activity and mental health counseling. Most students reported having structured practice in self-care (n = 97, 63%), reflection (n = 125, 81.2%), and mindfulness (n = 77, 50%) as a part of their training programs. Second-year genetic counseling students reporting mindfulness practices had significantly higher scores on the Insight subscale of the SRIS than those who did not, indicating that students engaged in mindfulness practice are better able to understand their thoughts, feelings, and behavior. The majority of students reported benefitting from structured practice in self-care (n = 63, 64.9%), reflection (n = 101, 80%), and mindfulness (n = 54, 70.1%). Open-ended responses regarding students' perceived benefits and limitations of structured practice were analyzed for recurrent themes. Students reported improved self-awareness which enhanced their counseling relationships during clinical rotations. However, they also perceived that implementation of self-awareness practices may have been inconsistent. Findings from this study have implications for integrating self-awareness practices into genetic counseling graduate curriculum.

Early Post-operative Feeding: An Investigation of Early Functional Outcomes for Oral Cancer Patients Treated with Surgical Resection and Free Flap Reconstruction.

Traditionally patients can remain nil by mouth (NBM) for up to 12 days after oral tumour resection with free flap reconstruction to reduce the risk of flap dehiscence, poor healing and fistulae. The literature reports that patients could on average remain an inpatient for up to 20 days post-surgery. An evaluation of the impact of a defined early oral feeding protocol was undertaken investigating functional outcomes and complications rates. We prospectively reviewed tracheostomy use, length of hospital stay, non-oral feeding status and swallowing function using the Performance Status Scale for Head and Neck Cancer (PSS-HN) within a defined early feeding protocol. Twenty-nine patients underwent surgical resection with free flap reconstruction for advanced primary oral cancer between January 2018 and December 2019. Average age was 59.5 (range 24-88). Tumour sites included oral tongue (n = 10), maxilla (n = 6), mandible (n = 6), floor of mouth (n = 5) and buccal mucosa (n = 2). Median time to decannulation was 7 days (range 3-20 days, n = 11). The majority of patients were able to tolerate at least oral fluids on day 1 post-operatively (86%, n = 25). In addition to oral intake, non-oral feeding was required in 90% (n = 26), the majority of which included a nasogastric tube (NGT) placed intraoperatively 54% (n = 14), others required gastrostomy 46% (n = 12). Median time to nasogastric tube removal was 6 days (range 3-15 days). Median length of hospital stay was 10 days (range 3-51). Mean PSS-Normalcy of Diet (NOD) score at point of hospital discharge was 36.55 (95% CI 30.9-42.2). Flap failure was noted in 3% (n = 1). The adoption of an early oral feeding protocol suggests that there is the potential for a shorter hospital stay and earlier swallowing rehabilitation.

Nondestructive Detection of Codling Moth Infestation in Apples Using Pixel-Based NIR Hyperspectral Imaging with Machine Learning and Feature Selection.

Codling moth (CM) (Cydia pomonella L.), a devastating pest, creates a serious issue for apple production and marketing in apple-producing countries. Therefore, effective nondestructive early detection of external and internal defects in CM-infested apples could remarkably prevent postharvest losses and improve the quality of the final product. In this study, near-infrared (NIR) hyperspectral reflectance imaging in the wavelength range of 900-1700 nm was applied to detect CM infestation at the pixel level for three organic apple cultivars, namely Gala, Fuji and Granny Smith. An effective region of interest (ROI) acquisition procedure along with different machine learning and data processing methods were used to build robust and high accuracy classification models. Optimal wavelength selection was implemented using sequential stepwise selection methods to build multispectral imaging models for fast and effective classification purposes. The results showed that the infested and healthy samples were classified at pixel level with up to 97.4% total accuracy for validation dataset using a gradient tree boosting (GTB) ensemble classifier, among others. The feature selection algorithm obtained a maximum accuracy of 91.6% with only 22 selected wavelengths. These findings indicate the high potential of NIR hyperspectral imaging (HSI) in detecting and classifying latent CM infestation in apples of different cultivars.

Perceptions of genetic risk, testing, and counseling among individuals with eating disorders.

OBJECTIVE: Eating disorders develop as a result of genetic and environmental factors. Given that they are multifactorial conditions with a genetic component, they fall within the scope of practice for genetic counseling, but people with these conditions are rarely referred. The purpose of this study was to explore the perceptions of causes of eating disorders, recurrence risk, and interest in genetic counseling and testing among individuals with eating disorders. METHOD: An online survey comprising both multiple choice and free form text questions, vignettes about genetic counseling, and the ED100K (validated eating disorder diagnostic questionnaire) was shared via support organizations and prominent bloggers in the eating disorders community to recruit individuals with a personal history of an eating disorder from November 2018 to February 2019. RESULTS: In total, 107 participants completed the survey. They perceived that both experiences and genetics were important factors in the development of their eating disorder. All responding participants overestimated the risk for recurrence of eating disorders in children, often by a large margin, and a notable minority reported that their experience with an eating disorder had a negative influence on their childbearing decisions. After imagined experience of genetic counseling, participants reported significantly decreased feelings of stigma, shame, and guilt. Most participants expressed interest in genetic counseling; fewer were interested in genetic testing. DISCUSSION: Genetic counseling may benefit individuals with eating disorders by providing accurate recurrence risk information and reducing feelings of guilt, stigma, and shame, which may in turn encourage earlier support seeking and recovery.

Fetal Alcohol Spectrum Disorders: A Review of the Neurobehavioral Deficits Associated With Prenatal Alcohol Exposure.

In utero alcohol exposure can disrupt the development of the fetal brain and result in a wide range of neurobehavioral outcomes collectively known as fetal alcohol spectrum disorders (FASD). This paper provides a comprehensive review of the cognitive and behavioral outcomes of prenatal alcohol exposure, including domains of general intelligence, executive functioning, language development, learning and memory, adaptive functioning, academic performance, and concurrent psychopathology. In addition, the current status of the neurobehavioral profile of FASD and its potential as a diagnostic tool will be discussed.

Relation Between Oppositional/Conduct Behaviors and Executive Function Among Youth with Histories of Heavy Prenatal Alcohol Exposure.

BACKGROUND: Youth with heavy prenatal alcohol exposure have high rates of behavioral concerns and psychopathology, including increased oppositional and conduct behaviors. The relation between those concerns and executive function (EF) deficits is unknown. We investigated the association of oppositional and conduct behavior and EF in adolescents to inform targeted intervention. METHODS: Subjects (N = 267) ages 10 to 17 years comprised 3 groups: alcohol-exposed with oppositional/conduct behaviors (AE+), alcohol-exposed without oppositional/conduct behaviors (AE-), and controls (CON). Group differences on direct neuropsychological (Delis-Kaplan Executive Function System [D-KEFS]) and indirect parent-report (Behavior Rating Inventory of Executive Function [BRIEF]) EF measures were tested with multivariate analysis of covariances, followed by univariate analysis of variances and pairwise comparisons. The contribution of attention-deficit/hyperactivity disorder (ADHD) within the AE groups was assessed in secondary analyses. RESULTS: On the D-KEFS, there was an omnibus main effect of group, with significant main effects on 3 of 6 variables (CON>AE+, AE-). Within the AE groups, ADHD did not alter the results. On the BRIEF, there was an omnibus significant main effect of group, with significant main effects on all scales (CON

Relation between adaptive function and IQ among youth with histories of heavy prenatal alcohol exposure.

BACKGROUND: Adaptive function and general intellectual function are two important and often correlated domains. While youth with prenatal alcohol exposure frequently demonstrate impairments in both domains, it is not clear whether the relation between these domains is consistent across levels of ability or whether, for example, adaptive function is less affected by intellectual function at higher ability levels. The aim of the current study was to test this relation in youth with and without prenatal alcohol exposure. METHODS: As part of the Collaborative Initiative on Fetal Alcohol Spectrum Disorders, Phase II, subjects with heavy prenatal alcohol exposure (AE) and nonexposed subjects with and without other clinical conditions or concerns (CON) completed a comprehensive neurobehavioral battery. Multiple regression analyses tested the relation between full scale IQ (FSIQ) and overall adaptive function. Interaction terms between Group and each variable were created to formally test for group differences. Three subsequent regression analyses tested which adaptive function domains (Communication, Daily Living Skills, Socialization) significantly contributed to results. Follow-up analyses examined correlations based on IQ range (low IQ <85; high IQ ≥85). RESULTS: The interaction between FSIQ and Group on overall adaptive function was significant; the relationship between FSIQ and adaptive function was weaker in the AE group than in the CON group. Regarding specific adaptive function domains, the interaction between FSIQ and Group was significant only in the Communication domain. Follow-up analyses showed, within the low IQ range, the correlation between FSIQ and Communication was stronger in the CON group than the AE group. Within the high IQ range, the correlation between FSIQ and Communication was significant only in the CON group. CONCLUSIONS: Although higher intellectual functioning was associated with better adaptive function ability among controls, this was not found among the alcohol-exposed youth where a general dampening of adaptive ability was noted. Further, the differential relationship between IQ and adaptive function between groups appears to be driven by communication abilities. These findings suggest that level of intellectual functioning of children with prenatal alcohol exposure does not fully account for caregiver-reported communication and overall adaptive function deficits particularly at higher levels of functioning.

Executive Functioning Correlates With Communication Ability in Youth With Histories of Heavy Prenatal Alcohol Exposure.

OBJECTIVES: Caregivers of youth with heavy prenatal alcohol exposure report impaired communication, which can significantly impact quality of life. Using data collected as part of the Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD), we examined whether cognitive variables predict communication ability of youth with histories of heavy prenatal alcohol exposure. METHODS: Subjects (ages 10-16 years) comprised two groups: adolescents with heavy prenatal alcohol exposure (AE) and non-exposed controls (CON). Selected measures of executive function (NEPSY, Delis-Kaplan Executive Function System), working memory (CANTAB), and language were tested in the child, while parents completed communication ratings (Vineland Adaptive Behavior Scales - Second Edition). Separate multiple regression analyses determined which cognitive domains predicted communication ability. A final, global model of communication comprised the three cognitive models. RESULTS: Spatial Working Memory and Inhibition significantly contributed to communication ability across groups. Twenty Questions performance related to communication ability in the CON group only while Word Generation performance related to communication ability in the AE group only. Effects remained significant in the global model, with the exception of Spatial Working Memory. CONCLUSIONS: Both groups displayed a relation between communication and Spatial Working Memory and Inhibition. Stronger communication ability related to stronger verbal fluency in the AE group and Twenty Questions performance in the CON group. These findings suggest that alcohol-exposed adolescents may rely more heavily on learned verbal storage or fluency for daily communication while non-exposed adolescents may rely more heavily on abstract thinking and verbal efficiency. Interventions aimed at aspects of executive function may be most effective at improving communication ability of these individuals. (JINS, 2018, 24, 1026-1037).

SCA2 presenting as a focal dystonia.

BACKGROUND: Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in ATXN2 on chromosome 12q24. Patients present with adult-onset progressive gait ataxia, slow saccades, nystagmus, dysarthria and peripheral neuropathy. Dystonia is known to occur as SCA2 advances, but is rarely the presenting symptom. CASE PRESENTATION: A 43-year-old right handed woman presented with focal dystonia of the right hand which started two years earlier with difficulty writing. There were only mild cerebellar signs. Her mother was reported to have a progressive gait disorder and we subsequently learned that she had SCA2. A total of 10 maternal family members were similarly affected. Over the course of 10 years, the patient's cerebellar signs progressed only mildly however the dystonia worsened to the extent of inability to use her right hand. Dystonia did not improve significantly with botulinum toxin, levodopa or trihexyphenidyl, but has shown marked improvement since DBS implantation in the GPi. CONCLUSIONS: We describe a patient with SCA2 who presented with focal dystonia of the right upper extremity. Subtle cerebellar signs as well as the family history became especially important given the absence of predominant gait ataxia. Our case emphasizes that focal dystonia is not only a feature of SCA2, but can also rarely be the presenting sign as well as the most prominent feature during the disease course.

Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects.

OBJECTIVE: The purpose of this study was to calculate the yield rates of CMA in fetuses diagnosed with various CHDs in a tertiary center. STUDY DESIGN: This cohort study collected prenatal genetic test results of 145 fetuses diagnosed with CHD. All 145 cases underwent Conventional karyotype (CK), followed by CMA in cases of negative CK result. "Detection rate" of genetic abnormalities was calculated as the percentage of cases with genetic abnormalities identified. The rate of genetic abnormalities detected by CK was first calculated, and then the cumulative detection rate was calculated in the study population. "Yield rate of CMA" was determined by subtracting the cumulative detection rate from the detection rate of CK. The cumulative detection rate was assumed to represent the detection rate of CMA since it is due to the fact that if CMA had been done for all patients before CK, it would have diagnosed all the genetic abnormalities in the study population, and thus it was named as anticipated CMA. RESULTS: Of the 145 CHD cases, 92 (63.4%) had isolated CHD and 53 (36.6%) had concomitant CHD and extracardiac anomaly (ECA). The detection rate of genetic abnormalities was 14% and 33.8% for CK and anticipated-CMA respectively (p < .001). The yield rate of CMA was 19.8% and 16.1% before and after the exclusion of cases with 22q.11.2 deletion/duplication, respectively. The detection rates of genetic abnormalities for isolated CHD, and concomitant CHD-ECA groups were 6.5% and 26.4% by CK, and 23.9% and 50.9% by anticipated-CMA, respectively (p < .01). The yield rate of CMA was 17.4% and 24.5% for isolated CHD and concomitant CHD-ECA cases, respectively. CONCLUSION: CMA increases the diagnostic yield in fetuses with CHD, regardless of whether it is isolated or not. CMA should be the modality of choice when investigating the genetic origin of CHDs until whole exome or genome sequencing is implemented into routine clinical practice.