Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications.

Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are among the most common rare genetic disorders associated with significant risk for neuropsychiatric disorders across the lifespan. Microdeletions and duplications in these loci are associated with neurocognitive deficits, yet there are few studies comparing these groups using the same measures. We address this gap in a prospective international collaboration applying the same computerized neurocognitive assessment. The Penn Computerized Neurocognitive Battery (CNB) was administered in a multi-site study on rare genomic disorders: 22q11.2 deletion (n = 397); 22q11.2 duplication (n = 77); 16p11.2 deletion (n = 94); and 16p11.2 duplication (n = 26). Domains examined include executive functions, episodic memory, complex cognition, social cognition, and sensori-motor speed. Accuracy and speed for each neurocognitive domain were included as dependent measures in a mixed-model repeated measures analysis, with locus (22q11.2, 16p11.2) and copy number (deletion/duplication) as grouping factors and neurocognitive domain as a repeated measures factor, with age and sex as covariates. We also examined correlation with IQ and site effects. We found that 22q11.2 deletions were associated with greater deficits in overall performance accuracy than 22q11.2 duplications, while 16p11.2 duplications were associated with greater deficits than 16p11.2 deletions. Duplications at both loci were associated with reduced speed. Performance profiles differed among the groups with particularly poor performance of 16p11.2 duplication on non-verbal reasoning and social cognition. Average accuracy on the CNB was moderately correlated with Full Scale IQ. No site effects were observed. Deletions and duplications of 22q11.2 and 16p11.2 have varied effects on neurocognition indicating locus specificity, with performance profiles differing among the groups. These profile differences can help inform mechanistic substrates to heterogeneity in presentation and outcome. Future studies could aim to link performance profiles to clinical features and brain function.

Corrigendum: EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.

[This corrects the article DOI: 10.3389/fpsyt.2021.716707.].

EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.

Introduction: Fragile X syndrome (FXS) is a genetic disorder caused by a mutation of the fragile X mental retardation 1 gene (FMR1). FXS is associated with neurophysiological abnormalities, including cortical hyperexcitability. Alterations in electroencephalogram (EEG) resting-state power spectral density (PSD) are well-defined in FXS and were found to be linked to neurodevelopmental delays. Whether non-linear dynamics of the brain signal are also altered remains to be studied. Methods: In this study, resting-state EEG power, including alpha peak frequency (APF) and theta/beta ratio (TBR), as well as signal complexity using multi-scale entropy (MSE) were compared between 26 FXS participants (ages 5-28 years), and 7 neurotypical (NT) controls with a similar age distribution. Subsequently a replication study was carried out, comparing our cohort to 19 FXS participants independently recorded at a different site. Results: PSD results confirmed the increased gamma, decreased alpha power and APF in FXS participants compared to NT controls. No alterations in TBR were found. Importantly, results revealed reduced signal complexity in FXS participants, specifically in higher scales, suggesting that altered signal complexity is sensitive to brain alterations in this population. The replication study mostly confirmed these results and suggested critical points of stagnation in the neurodevelopmental curve of FXS. Conclusion: Signal complexity is a powerful feature that can be added to the electrophysiological biomarkers of brain maturation in FXS.

Cognitive predictors of sequential motor impairments in children with dyslexia and/or attention deficit/hyperactivity disorder.

This study examined cognitive predictors of sequential motor skills in 215 children with dyslexia and/or attention deficit/hyperactivity disorder (ADHD). Visual working memory and math fluency abilities contributed significantly to performance of sequential motor abilities in children with dyslexia (N = 67), ADHD (N = 66) and those with a comorbid diagnosis (N = 82), generally without differentiation between groups. In addition, primary diagnostic features of each disorder, such as reading and inattention, did not contribute to the variance in motor skill performance of these children. The results support a unifying framework of motor impairment in children with neurodevelopmental disorders such as dyslexia and ADHD.

Shared and differentiated motor skill impairments in children with dyslexia and/or attention deficit disorder: From simple to complex sequential coordination.

Dyslexia and Attention deficit disorder (AD) are prevalent neurodevelopmental conditions in children and adolescents. They have high comorbidity rates and have both been associated with motor difficulties. Little is known, however, about what is shared or differentiated in dyslexia and AD in terms of motor abilities. Even when motor skill problems are identified, few studies have used the same measurement tools, resulting in inconstant findings. The present study assessed increasingly complex gross motor skills in children and adolescents with dyslexia, AD, and with both Dyslexia and AD. Our results suggest normal performance on simple motor-speed tests, whereas all three groups share a common impairment on unimanual and bimanual sequential motor tasks. Children in these groups generally improve with practice to the same level as normal subjects, though they make more errors. In addition, children with AD are the most impaired on complex bimanual out-of-phase movements and with manual dexterity. These latter findings are examined in light of the Multiple Deficit Model.

Duodenal obstruction caused by duodenal sigmoid flexure volvulus in dairy cattle: 29 cases (2006-2010).

OBJECTIVE: To characterize duodenal sigmoid flexure volvulus (DSFV) and determine the prognosis for affected cattle undergoing surgery. DESIGN: Retrospective case series. ANIMALS: 29 dairy cattle. PROCEDURES: The medical records were analyzed for history, signalment, clinical signs, medical management, surgical findings, and outcome. RESULTS: 29 cattle were determined to have DSFV between December 2006 and August 2010. Twenty cattle had had an omentopexy or pyloropexy performed 1 day to 2 years before initial evaluation. Cattle were afebrile, tachycardic, and moderately dehydrated, with a small zone of percussion with a ping at the 10th to 12th right intercostal spaces and associated succussion. Biochemical changes were a severe hypokalemic (mean ± SD, 2.9 ± 0.5 mmol/L; median, 3.1 mmol/L; range, 2.08 to 3.92 mmol/L), hypochloremic (mean, 69.7 ± 11.1 mmol/L; median, 71.7 mmol/L; range, 49.1 to 94.1 mmol/L) metabolic alkalosis (mean total CO(2), 44.5 ± 7.4 mmol/L; median, 45.3 mmol/L; range, 31.5 to 59.6 mmol/L) and hyperbilirubinemia (mean, 32.4 ± 29.0 µmol/L; median, 20.5 µmol/L; range, 7.8 to 107 µmol/L). Surgical findings for DSFV included an empty descending duodenum adjacent to a dorsally displaced and dilated cranial segment of the duodenum, distended abomasum and gallbladder, and a tight volvulus at the base of the duodenal sigmoid flexure. Manual reduction was considered successful if the descending duodenum filled after cranial duodenal massage. Twenty-two patients were successfully treated; the remaining 7 died or were euthanized within 4 days after surgery. CONCLUSIONS AND CLINICAL RELEVANCE: A condition clinically resembling abomasal volvulus but affecting the duodenal sigmoid flexure has been recognized in dairy cattle. When a focal, dorsal right-sided ping and succussion are present combined with severe hypokalemic, hypochloremic metabolic alkalosis and high bilirubin concentration, DSFV should be suspected, especially when there is a history of prior abomasal fixation. After surgical correction, the prognosis is fair to good.

Echocardiographic findings of tricuspid blood cyst mimicking bacterial endocarditis in a dairy cow.

The most common endocardial disease in cattle is bacterial endocarditis. The diagnosis of the disease in living animals is mainly based on clinical findings and echocardiographic detection of an irregularly thickened valve. Despite its presumed good sensitivity, little is known on the specificity of transthoracic echocardiography with regards to endocarditis. This case report describes the echocardiographic findings in a dairy cow diagnosed with a chronic inflammatory process, liver and splenic abscesses and tricuspid valve blood cysts that can be mistaken for bacterial endocarditis, thus emphasizing the need to improve antemortem diagnostic tools for endocarditis in cattle.

Ultrasonographic appearance of lymphomatous infiltration of the abomasum in cows with lymphoma.

CASE DESCRIPTION: 4 adult Holstein dairy cows were examined for anorexia and decreased milk production. CLINICAL FINDINGS: Clinical signs included abdominal distension, normal to decreased ruminal motility, and decreased fecal output. Hypochloremia and high BUN concentration were also noted on serum biochemical analysis. Transabdominal ultrasonography revealed abnormal thickening of the abomasum with pyloric thickening and loss of the typical layered appearance of the pyloric wall. Results of cytologic examination of fine-needle aspirates of the abnormal portion of the abomasum were compatible with a diagnosis of lymphoma in 3 cows. OUTCOME: The diagnosis of lymphoma involving the abomasum was confirmed by exploratory laparotomy, necropsy, or slaughterhouse reports. Two cows were euthanatized, 1 died 5 days after the diagnosis, and 1 was sent to the slaughterhouse, but the carcass was discarded because of generalized lymphoma. CLINICAL RELEVANCE: Transabdominal ultrasonography is a noninvasive portable test that can be useful for the diagnosis of lymphomatous infiltration of the pyloric portion of the abomasum, which may result in obstruction. This can be especially useful to avoid unnecessary treatments when no typical signs of enzootic lymphoma are present. Percutaneous fine-needle aspiration of the abnormally thickened abomasal wall should be performed. These procedures can enable diagnosis of this neoplasm, which has a relatively poor prognosis, thus avoiding the unnecessary costs incurred by exploratory laparotomy.

Bovine tricuspid endocarditis as a cause of increased serum concentration of cardiac troponins.

A Holstein cow presented for weight loss and anorexia had tachycardia, heart murmur, and a chronic inflammatory process. Serum cardiac troponin I was increased at 3.52 ng/mL. Transthoracic echocardiography revealed a thickened tricuspid valve and comet-tail artifacts compatible with gas in the affected area. This report suggests that serum cardiac troponin I may be increased in bacterial endocarditis in cattle.

Comparison of 2-step laparoscopy-guided abomasopexy versus omentopexy via right flank laparotomy for the treatment of dairy cows with left displacement of the abomasum in on-farm settings.

OBJECTIVE: To compare characteristics and results of 2-step laparoscopy-guided abomasopexy versus omentopexy via laparotomy in the right paralumbar fossa for the treatment of dairy cows with a left displaced abomasum (LDA). DESIGN: Prospective clinical trial. 253 dairy cows with an LDA. PROCEDURES: All cows that were treated with omentopexy (n = 101) or 2-step laparoscopy-guided abomasopexy (152) from July 2005 through December 2006 were included. Presurgical, perisurgical, and postsurgical information was recorded by attending veterinarians. Producers were interviewed by telephone 7 and 60 days after surgery regarding the response of cows to surgery. Characteristics of and responses to the 2 surgical techniques were compared. RESULTS: At 7 days after surgery, the 2 groups of cows were not significantly different with respect to appetite, comfort, and milk yield; at 60 days after surgery, groups were similar with respect to milk yield, cull rates, and risk of relapse of LDA. Antimicrobial treatment in response to postsurgical pyrexia was necessary in only 20.4% (31/152) of cows that were treated with 2-step laparoscopy-guided abomasopexy. Mean duration (preparation and surgery) of 2-step laparoscopy-guided abomasopexy was significantly less than that of omentopexy (36 vs 74 minutes, respectively). CONCLUSIONS AND CLINICAL RELEVANCE: Results of 2-step laparoscopy-guided abomasopexy and omentopexy via laparotomy in the right paralumbar fossa were not significantly different. Compared with omentopexy, laparoscopy-guided abomasopexy was performed more quickly and required postsurgical administration of antimicrobials less frequently. Although these factors may be of economic consequence to veterinarians and producers, other aspects must also be considered when choosing between techniques.