Working memory and relational reasoning in Klinefelter syndrome

AbstractKlinefelter syndrome (KS) is a sex chromosome abnormality associated with male infertility and mild cognitive deficits. Individuals with KS have been reported to have impaired verbal ability, as well as deficits in executive function. To further understand the nature of their deficits, we assessed specific elements of frontal lobe function such as working memory and relational reasoning. Men with KS exhibited a deficit in a transitive inference task in which participants ordered a set of names based on a list of propositions about the relative heights of the people named. This deficit was present even for items in which the propositions were given in order, so a chaining strategy could be used. Men with KS are also impaired on the n-back task, which uses letters as stimuli. In contrast, these men performed as well as controls in nonverbal reasoning (Raven's Progressive Matrices). These results suggest that men with KS have intact nonverbal reasoning abilities, but that a difficulty in encoding verbal information into working memory may underlie their executive and linguistic impairments. (JINS, 2003, 9, 839–846.)

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The relationship between emotion understanding and social skills in preschoolers: The mediating role of verbal ability and the moderating role of working memory

European Journal of Developmental Psychology ◽

10.1080/17405629.2020.1854217 ◽

2020 ◽

pp. 1-17

Author(s):

Yulong Tang ◽

Paul L. Harris ◽

Hong Zou ◽

Juan Wang ◽

Zhinuo Zhang

Keyword(s):

Working Memory ◽

Social Skills ◽

Verbal Ability ◽

Emotion Understanding ◽

Mediating Role ◽

The Relationship ◽

Moderating Role

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Relationship of verbal ability and working memory to spelling achievement and learning to spell

Reading Research and Instruction ◽

10.1080/19388078809557956 ◽

1988 ◽

Vol 28 (1) ◽

pp. 33-43 ◽

Cited By ~ 20

Author(s):

Jeanne E. Ormrod ◽

Kathryn F. Cochran

Keyword(s):

Working Memory ◽

Verbal Ability ◽

Spelling Achievement ◽

Relationship Of

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Association of General Cognitive Functions with Gaming Use in Young Adults: A Comparison among Excessive Gamers, Regular Gamers and Non-Gamers

Journal of Clinical Medicine ◽

10.3390/jcm10112293 ◽

2021 ◽

Vol 10 (11) ◽

pp. 2293

Author(s):

Joon Hwan Jang ◽

Sun Ju Chung ◽

Aruem Choi ◽

Ji Yoon Lee ◽

Bomi Kim ◽

...

Keyword(s):

Working Memory ◽

Young Adults ◽

High Risk ◽

Risk Group ◽

Internet Gaming Disorder ◽

Verbal Ability ◽

High Risk Group ◽

Control Group ◽

Adult Intelligence Scale ◽

Internet Gaming

This study aimed to examine the relationship of general cognitive function with gaming use, and to identify elements of intelligence predicting increased gaming use. In total, 160 young adults participated in this study. Two clinical groups (n = 97) were defined: excessive gaming users diagnosed with internet gaming disorder (IGD) (n = 64) and the high-risk users (n = 33). The control group (n = 63) was also divided into regular gamers (n = 14) and non-gamers (n = 49). Participants completed the Wechsler Adult Intelligence Scale-IV and self-reported questionnaires regarding IGD severity and gaming hours. The IGD group had significantly lower Full Scale Intelligence Quotient (FSIQ), Verbal Comprehension Index (VCI), and Processing Speed Index (PSI) scores, compared with regular gamers and non-gamers. The IGD group also exhibited lower Working Memory Index (WMI) scores, compared with non-gamers. The high-risk group demonstrated significantly lower PSI score, compared with non-gamers. Furthermore FSIQ, VCI, WMI, and PSI scores were significant predictors of gaming hours in the IGD group. For the high-risk group, FSIQ, WMI, and VCI scores were negatively associated with gaming hours. Our study demonstrates the need to address the importance of enhancing working memory and verbal ability, thus, preventing the development of gaming addiction among individuals at high-risk gamers.

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Fire-Setting Behavior in Individuals With Klinefelter Syndrome

PEDIATRICS ◽

10.1542/peds.82.1.115 ◽

1988 ◽

Vol 82 (1) ◽

pp. 115-117

Author(s):

MARVIN E. MILLER ◽

STEPHEN SULKES

Keyword(s):

Criminal Behavior ◽

Sex Chromosome ◽

Klinefelter Syndrome ◽

Mental Deficiency ◽

The Other ◽

Sexual Deviation ◽

Reactive Depression ◽

Y Chromosomes ◽

Psychiatric Problems ◽

Chromosome Disorder

Klinefelter syndrome is a sex chromosome disorder with an incidence of approximately two per 1,000 male newborns.1 Eighty percent of individuals with Klinefelter syndrome are 47,XXY, whereas the other 20% have a variant sex chromosomal constitution with additional supernumerary X or Y chromosomes (ie, 48,XXXY, 48XXYY) or are mosaic.2 Individuals with Klinefelter syndrome have small testes which usually cannot produce sperm or normal amounts of testosterone. The results of this are infertility and undermasculinization. Behavioral and psychiatric problems are also common in individuals with Klinefelter syndrome and include personality disorder, reactive depression, schizophrenia, mental deficiency, sexual deviation, criminal behavior, and alcoholism.3

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Study on clinical and genetic characteristics of male patients with non-obstructive azoospermia

Tạp chí Nghiên cứu Y học ◽

10.52852/tcncyh.v141i5.211 ◽

2021 ◽

Vol 141 (5) ◽

pp. 39-45

Author(s):

Nguyen Hoai Bac ◽

Hoang Long

Keyword(s):

Sex Chromosome ◽

Chromosomal Abnormalities ◽

Klinefelter Syndrome ◽

Obstructive Azoospermia ◽

Genetic Characteristics ◽

Azfc Deletion ◽

Genetic Abnormalities ◽

History Of ◽

Male Patients ◽

Infertile Patients

We examined 501 patients with non - obstructive azoospermia to evaluate clinical, subclinical, and genetic characteristics. The results show that the average age of patients in the study was 29.8 ± 5.5 years. Primary infertility accounts for the majority, with a rate of 90.3%. There was 38.6% of patients had a history of mumps orchitis. The average levels of FSH, LH, testosterone were 31.6 ± 16.5 mIU/mL, 15.5 ± 10 mIU/mL and 12.8 ± 7.13 nmol/L, respectively. The prevalence of chromosomal abnormalities was 30.7%. Of these, the sex chromosome aneuploidy with 47,XXY karyotype (Klinefelter syndrome) accounted for 27.3%. The incidence of AZF microdeletion was 13.8%. Of these, AZFc deletion was the most common at the rate of 42.1%, AZFa deletion, which accounted for 2.6%, were the least prevalent, and the frequency of AZFd deletion was 5.3%. However, there was no solitary AZFb deletion, which combined with other AZF deletions with 34.2%. Our research shows that mumps orchitis and chromosomal abnormalities are the leading causes of azoospermia. Screening for genetic abnormalities plays an important role in infertile patients with non - obstructive azoospermia.

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DNA methylation-based sex classifier to predict sex and identify sex chromosome aneuploidy

10.1101/2020.10.19.345090 ◽

2020 ◽

Author(s):

Yucheng Wang ◽

Eilis Hannon ◽

Olivia A Grant ◽

Tyler J Gorrie-Stone ◽

Meena Kumari ◽

...

Keyword(s):

Dna Methylation ◽

Sex Chromosome ◽

Klinefelter Syndrome ◽

Association Studies ◽

Gene Expression Omnibus ◽

Sex Chromosome Aneuploidy ◽

Chromosome Aneuploidy ◽

Wide Range ◽

Almost All ◽

Methylation Patterns

AbstractSex is an important covariate of epigenome-wide association studies due to its strong influence on DNA methylation patterns across numerous genomic positions. Nevertheless, many samples on the Gene Expression Omnibus (GEO) frequently lack a sex annotation or are incorrectly labelled. Considering the influence that sex imposes on DNA methylation patterns, it is necessary to ensure that methods for filtering poor samples and checking of sex assignment are accurate and widely applicable. In this paper, we presented a novel method to predict sex using only DNA methylation density signals, which can be readily applied to almost all DNA methylation datasets of different formats (raw IDATs or text files with only density signals) uploaded to GEO. We identified 4345 significantly (p < 0.01) sex-associated CpG sites present on both 450K and EPIC arrays, and constructed a sex classifier based on the two first components of PCAs from the two sex chromosomes. The proposed method is constructed using whole blood samples and exhibits good performance across a wide range of tissues. We further demonstrated that our method can be used to identify samples with sex chromosome aneuploidy, this function is validated by five Turner syndrome cases and one Klinefelter syndrome case. The proposed method has been integrated into the wateRmelon Bioconductor package.

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Klinefelter Syndrome

Cognitive and Behavioral Abnormalities of Pediatric Diseases ◽

10.1093/oso/9780195342680.003.0025 ◽

2010 ◽

Author(s):

Christine M. Temple

Keyword(s):

Developmental Disorders ◽

Sex Chromosome ◽

Klinefelter Syndrome ◽

Group Analysis ◽

Average Height ◽

Body Hair ◽

The United Kingdom ◽

Chromosomal Disorder ◽

Arm Span ◽

Sex Chromosome Abnormalities

Klinefelter syndrome (KS) was first identified by Dr. Harry Klinefelter in 1942 (Klinefelter, Reifenstein, and Albright 1942) in a report of nine tall men with hypogonadism, sparse body hair, gynecomastia, and infertility. The associated chromosome disorder 47XXY was identified several years later (Jacobs and Strong 1959). The full phenotype consists of hypogonadism, low testosterone levels, infertility, gynecomastia, sparse body hair, eunuchoid body habitus, long legs and arm span, and above-average height. However, except for hypogonadism (small testes), which is present in nearly all individuals with XXY, the physical phenotype may be quite variable. In live-born males, KS has an incidence of 1:500 to 1:1,000 (Bojesen, Juul, and Gravholt 2003; Hamerton, Canning, Ray, and Smith 1975; Ratcliffe, Bancroft, Axworthy, and McLaren 1982; Rovet, Netley, Keenan, Bailey, and Stewart 1996), with a further incidence of 1:300 in spontaneous abortions (Hassold and Jacobs 1984). Klinefelter syndrome is the most common of the sex chromosome abnormalities and the second most common chromosomal disorder after Down syndrome. The possibility that incidence is increasing has also been raised (Morris, Alberman, Scott, and Jacobs 2008). Despite this, possibly as a consequence of poor identification, the syndrome has been studied less extensively than, for example, Turner syndrome (45XO) and many other developmental disorders. Boys with KS are generally tall and long-limbed but with increasing height in the population, these characteristics alone are not necessarily distinguishing. Individuals with KS are generally not immediately identifiable, and many cases of KS remain unidentified throughout life. Up to two-thirds of cases may never be identified clinically (Lanfranco, Kamischke, Zitzmann, and Nieschlag 2004). There is no clearly identifiable facial appearance, although mandibular prognathism (a prominent lower jaw and extended chin) is reported on group analysis using radiographic cephalometry (Brown, Alvesalo, and Townsend 1993). Increased genetic screening now means that 10% of cases in the United Kingdom are diagnosed prenatally on the basis of karyotype, with a further 25% of cases diagnosed during childhood (Abramsky and Chapple 1997). However, this means that 65% of cases reach puberty undiagnosed. In Belgium, fewer than 10% of expected cases are diagnosed before puberty (Bojesen et al. 2003).

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A-58 Rare Case of Klinefelter Syndrome with 13/14 Balanced Translocation and Absence Epilepsy: Impact of Combined Genotypes on Cognitive Neuropsychological Phenotype

Archives of Clinical Neuropsychology ◽

10.1093/arclin/acz034.58 ◽

2019 ◽

Vol 34 (6) ◽

pp. 918-918

Author(s):

S Shagalow ◽

R Facchini ◽

D Masur ◽

E Weiss ◽

S Schneider ◽

...

Keyword(s):

Motor Coordination ◽

Sex Chromosome ◽

De Novo ◽

Klinefelter Syndrome ◽

Chromosome Rearrangement ◽

Receptive Language ◽

Absence Epilepsy ◽

Language Therapy ◽

Balanced Translocation ◽

Increased Risk

Abstract Objective Klinefelter syndrome (KS) and Robertsonian translocation of 13/14 [rob t(13;14)] are the most common sex-chromosome disorder and chromosome rearrangement, respectively (Engels et al., 2008; Skakkebæk, Wallentin, & Gravholt, 2015). Both are associated with increased risk of cognitive/intellectual disability (ID). A case of KS and de novo (i.e., unbalanced) rob t(13;14) was previously reported (Gül & Şayli, 1994). A case of KS with balanced rob t(13;14) and well-controlled generalized absence epilepsy will be presented with consideration for pediatric neuropsychological practice. Method Neuropsychological evaluation of a 12-year-old, right-handed boy diagnosed with comorbid KS, rob t(13;14), and generalized absence epilepsy. Particular attention was given to language given his KS diagnosis. The patient is in a 12:1:1 self-contained classroom with speech-language therapy and social skills groups in place. The patient’s mother is confirmed to have rob t(13;14), whereas paternal contribution is unknown. Results Adolescent with a history of language difficulties, especially comprehension. Recent school-based WISC-V FSIQ was in the extremely low range (SS = 53), with weaker verbal comprehension and working memory. Academic achievement was globally very low. Expressive and receptive language, visual perception and motor coordination were extremely low to low average. Verbal list learning and visual attention were near average to average. Conclusions This case contributes to the very limited body of pediatric neuropsychological data on the combined genotype of KS with rob t(13;14) and absence epilepsy. Both the KS and rob t(13;14) cognitive phenotypes have been characterized as highly variable, with the comorbidity a likely increased risk for ID.

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