High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Abstract Background Toxoplasmosis resulting from infection with the Toxoplasma parasite has become an endemic disease worldwide. Recently, a few studies have reported a high prevalence of Toxoplasmosis infections among Saudi Arabian women. This disease could become life threatening for pregnant women and for immunodeficient people. There is evidence that infections during pregnancy, especially in the early stages, are associated with neurodevelopmental disorders. Autism disorder represents one of the most common neurodevelopmental disorders worldwide; it is associated with delayed language development, weak communication interaction, and repetitive behavior. The relationship between prenatal toxoplasmosis and autism in childhood remains unclear. The present study aims to report a link between maternal toxoplasmosis and autistic offspring among Saudi Arabian women. Method Blood samples (36 maternal, 36 from their non-autistic children, and 36 from their autistic children) were collected for serological and molecular evaluation. Results A toxoplasmosis infection was reported for 33.34% of participants using an ELISA assay (5.56% IgG+/IgM+, 11.11% IgG−/IgM+, and 16.67% IgG+/IgM-); however, a nested PCR assay targeting B1 toxoplasmosis specific genes recorded positive tests for 80.56% of the samples. In addition, the present study detected several points of mutation of mtDNA including NADH dehydrogenase (ND1, ND4) and Cyt B genes and the nDNA pyruvate kinase (PK) gene for autistic children infected with toxoplasmosis. Conclusion Considering previous assumptions, we suggest that a maternal toxoplasmosis infection could have a role in the development of childhood autism linked to mtDNA and nDNA impairment.

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Sleep Spindle Characteristics in Children with Neurodevelopmental Disorders and Their Relation to Cognition

Neural Plasticity ◽

10.1155/2016/4724792 ◽

2016 ◽

Vol 2016 ◽

pp. 1-27 ◽

Cited By ~ 24

Author(s):

Reut Gruber ◽

Merrill S. Wise

Keyword(s):

Cognitive Function ◽

Neurodevelopmental Disorders ◽

Sleep Problems ◽

Small Sample ◽

Future Research ◽

Sleep Spindles ◽

Sleep Spindle ◽

High Prevalence ◽

Future Research Directions ◽

Small Sample Sizes

Empirical evidence indicates that sleep spindles facilitate neuroplasticity and “off-line” processing during sleep, which supports learning, memory consolidation, and intellectual performance. Children with neurodevelopmental disorders (NDDs) exhibit characteristics that may increase both the risk for and vulnerability to abnormal spindle generation. Despite the high prevalence of sleep problems and cognitive deficits in children with NDD, only a few studies have examined the putative association between spindle characteristics and cognitive function. This paper reviews the literature regarding sleep spindle characteristics in children with NDD and their relation to cognition in light of what is known in typically developing children and based on the available evidence regarding children with NDD. We integrate available data, identify gaps in understanding, and recommend future research directions. Collectively, studies are limited by small sample sizes, heterogeneous populations with multiple comorbidities, and nonstandardized methods for collecting and analyzing findings. These limitations notwithstanding, the evidence suggests that future studies should examine associations between sleep spindle characteristics and cognitive function in children with and without NDD, and preliminary findings raise the intriguing question of whether enhancement or manipulation of sleep spindles could improve sleep-dependent memory and other aspects of cognitive function in this population.

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Missense variant contribution to USP9X-female syndrome

npj Genomic Medicine ◽

10.1038/s41525-020-00162-9 ◽

2020 ◽

Vol 5 (1) ◽

Author(s):

Lachlan A. Jolly ◽

Euan Parnell ◽

Alison E. Gardner ◽

Mark A. Corbett ◽

Luis A. Pérez-Jurado ◽

...

Keyword(s):

Neurodevelopmental Disorders ◽

De Novo ◽

Missense Variant ◽

Loss Of Function ◽

Partial Loss ◽

The Core ◽

Combined Application ◽

Phenotypic Information ◽

Pathogenic Variation ◽

Males And Females

AbstractUSP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants, in females de novo heterozygous complete loss-of-function mutations predominate, and give rise to the clinically recognisable USP9X-female syndrome. Here we provide evidence of the contribution of USP9X missense and small in-frame deletion variants in USP9X-female syndrome also. We scrutinise the pathogenicity of eleven such variants, ten of which were novel. Combined application of variant prediction algorithms, protein structure modelling, and assessment under clinically relevant guidelines universally support their pathogenicity. The core phenotype of this cohort overlapped with previous descriptions of USP9X-female syndrome, but exposed heightened variability. Aggregate phenotypic information of 35 currently known females with predicted pathogenic variation in USP9X reaffirms the clinically recognisable USP9X-female syndrome, and highlights major differences when compared to USP9X-male associated neurodevelopmental disorders.

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High prevalence of cardiovascular risk factors in a Western urban Turkish population: a community-based study

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology ◽

10.5152/akd.2013.002 ◽

2012 ◽

Cited By ~ 1

Author(s):

Belgin Unal ◽

Kaan Sozmen ◽

Reyhan Ucku ◽

Gul Ergor ◽

Ahmet Soysal ◽

...

Keyword(s):

Risk Factors ◽

Cardiovascular Risk ◽

Cardiovascular Risk Factors ◽

Turkish Population ◽

Community Based ◽

High Prevalence

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The psychiatric phenotypes of 1q21 distal deletion and duplication

Translational Psychiatry ◽

10.1038/s41398-021-01226-9 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Stefanie C. Linden ◽

Cameron J. Watson ◽

Jacqueline Smith ◽

Samuel J. R. A. Chawner ◽

Thomas M. Lancaster ◽

...

Keyword(s):

Anxiety Disorders ◽

Neurodevelopmental Disorders ◽

Copy Number ◽

Copy Number Variants ◽

Adult Group ◽

Clinical Genetic ◽

High Frequencies ◽

High Prevalence ◽

Neurodevelopmental Deficits ◽

Cognitive Data

AbstractCopy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the detailed clinical phenotype associated with particular variants is available. We present the largest study of the microdeletion and -duplication at the distal 1q21 locus, which has been associated with schizophrenia and intellectual disability, in order to investigate the range of psychiatric phenotypes. Clinical and cognitive data from 68 deletion and 55 duplication carriers were analysed with logistic regression analysis to compare frequencies of mental disorders between carrier groups and controls, and linear mixed models to compare quantitative phenotypes. Both children and adults with copy number variants at 1q21 had high frequencies of psychopathology. In the children, neurodevelopmental disorders were most prominent (56% for deletion, 68% for duplication carriers). Adults had increased prevalence of mood (35% for deletion [OR = 6.6 (95% CI: 1.4–40.1)], 55% for duplication carriers [8.3 (1.4–55.5)]) and anxiety disorders (24% [1.8 (0.4–8.4)] and 55% [10.0 (1.9–71.2)]). The adult group, which included mainly genetically affected parents of probands, had an IQ in the normal range. These results confirm high prevalence of neurodevelopmental disorders associated with CNVs at 1q21 but also reveal high prevalence of mood and anxiety disorders in a high-functioning adult group with these CNVs. Because carriers of neurodevelopmental CNVs who show relevant psychopathology but no major cognitive impairment are not currently routinely receiving clinical genetic services widening of genetic testing in psychiatry may be considered.

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High prevalence of vitamin D deficiency among pregnant women in a Turkish population and impact on perinatal outcomes

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.3109/14767058.2014.969235 ◽

2014 ◽

Vol 28 (15) ◽

pp. 1828-1832 ◽

Cited By ~ 15

Author(s):

Serpil Aydogmus ◽

Sefa Kelekci ◽

Huseyin Aydogmus ◽

Serenat Eriş ◽

Raziye Desdicioğlu ◽

...

Keyword(s):

Vitamin D ◽

Pregnant Women ◽

Vitamin D Deficiency ◽

Perinatal Outcomes ◽

Turkish Population ◽

High Prevalence

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Bioelectronic Measurement of Nasality in Trainable Mentally Retarded Children

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.4203.436 ◽

1977 ◽

Vol 42 (3) ◽

pp. 436-439 ◽

Cited By ~ 2

Author(s):

David A. Daly

Keyword(s):

Mentally Retarded ◽

High Prevalence ◽

Mentally Retarded Children ◽

Trainable Mentally Retarded

Fifty trainable mentally retarded children were evaluated with TONAR II, a bioelectronic instrument for detecting and quantitatively measuring voice parameters. Results indicated that one-half of the children tested were hypernasal. The strikingly high prevalence of excessive nasality was contrasted with results obtained from 64 nonretarded children and 50 educable retarded children tested with the same instrument. The study demonstrated the need of retarded persons for improved voice and resonance.

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Multiple Perspectives on the Barriers to Identification and Management of Pediatric Voice Disorders

Perspectives of the ASHA Special Interest Groups ◽

10.1044/persp2.sig3.49 ◽

2017 ◽

Vol 2 (3) ◽

pp. 49-56

Author(s):

Jana Childes ◽

Alissa Acker ◽

Dana Collins

Keyword(s):

Academic Success ◽

Voice Disorders ◽

School Personnel ◽

Voice Disorder ◽

Multiple Perspectives ◽

Vocal Qualities ◽

High Prevalence ◽

Pediatric Populations ◽

Low Incidence ◽

University Settings

Pediatric voice disorders are typically a low-incidence population in the average caseload of clinicians working within school and general clinic settings. This occurs despite evidence of a fairly high prevalence of childhood voice disorders and the multiple impacts the voice disorder may have on a child's social development, the perception of the child by others, and the child's academic success. There are multiple barriers that affect the identification of children with abnormal vocal qualities and their access to services. These include: the reliance on school personnel, the ability of parents and caretakers to identify abnormal vocal qualities and signs of misuse, the access to specialized medical services for appropriate diagnosis, and treatment planning and issues related to the Speech-Language Pathologists' perception of their skills and competence regarding voice management for pediatric populations. These barriers and possible solutions to them are discussed with perspectives from the school, clinic and university settings.

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