Neuropsychological functions,sleep, and mental health in adults with Klinefelter syndrome

A few studies have examined neuropsychological functions, sleep, and mental health combined in Klinefelter syndrome (KS; 47,XXY). We investigated neuropsychological functions with standard tests, sleep with actigraphy, and self‐reported mental health in 30 men with KS (Mean age = 36.7 years) compared to 21 controls (Mean age = 36.8 years). Men with KS scored significantly lower on mental speed, attention span, working memory, inhibition, and set‐shifting tests, as well as overall IQ (mean effect size difference Cohen's d = 0.79). Men with KS had significantly longer night wakes, with no differences in other sleep variables (mean d = 0.34). Men with KS reported poorer mental health than controls (mean d = 1.16). Regression analyses showed neuropsychological functions explained variance in some sleep domains for men with KS but not for controls. Neuropsychological functions explained variance in some mental health domains for controls. For men with KS, however, verbal IQ was the only significant predictor of mental health. Altogether, men with KS display problems in neuropsychological functions and mental health but do not appear different from controls on most sleep parameters. Our findings indicate that relations between neuropsychological functions, sleep, and mental health differ between men with KS and controls.     

Effects of social factors on adrenal weight and related physiology of Macaca fascicularis

Increased adrenal cortical activity and hypertrophy of adrenal glands associated with defeat and social subordination have been reported frequently in small mammals; these adrenal changes have been linked to impairments in immune response, glucose metabolism and reproductive performance. Similar studies in primates have produced variable results. The current study was undertaken to illuminate the effects of social status on the adrenal gland and to examine concurrent effects of social variables on other physiological systems in Macaca fascicularis, in an initial exploration of the hypothesis that high and low social status have different physiological consequences. Sixty adult male M. fascicularis were housed in social groups of n = 5, under either stable or unstable social conditions. It was found that subordinate animals had heavier adrenal glands and somewhat higher plasma glucose concentrations than dominants. In contrast, dominants had higher blood pressure and worsened atherosclerosis, under some conditions, than subordinates. These data appear to offer preliminary support for Henry and Stephen's hypothesis of differential arousal of dominant and subordinate animals.     

Interstitial deletion of band q12 of chromosome 5

A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal.
The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12.     

Trisomy 6qter

A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.     

Clinical aspects of the MASA syndrome in a large family, including expressing females

We have evaluated, both clinically and by linkage analysis, a large family with 22 known affected males with the MASA syndrome (McKusick 303300). Clinical findings varied widely amongst the affected family members, with some appearing initially to have the MASA syndrome and others to have X-linked hydrocephalus (HSAS) (McKusick 307000). Important findings included the presence of adducted thumbs in two obligate carriers, learning problems or mild mental retardation in three females, two of whom were obligate carriers, and hydrocephalus with neonatal death in three females born to obligate carriers. X-inactivation analysis in lymphocytes from the two women with adducted thumbs revealed preferential inactivation of one X chromosome, suggesting that nonrandom X-inactivation may be responsible for clinical expression in females. The presence of HSAS in some individuals of this family and the MASA syndrome in others further supports the hypothesis that these two conditions are the result of a mutation in the same gene.     

Mental retardation,macrocephaly, short stature and craniofacial dysmorphism in three sisters: A new entity among the mental retardation-macrocephaly syndromes?

In this report we describe a true macrocephaly-mental retardation syndrome in three sisters. In addition, they present a distinct craniofacial dysmorphism with coarse facial features. Further family investigation revealed a similar macrocephaly in the mother and her father, suggesting autosomal dominant transmission of this familial macrocephaly. Present knowledge of the nosology of the mental retardation-macrocephaly association is reviewed and discussed.     

Ring chromosome 15 and 15qs+ mosaic: Clinical and cytogenetic behaviour spanning 29 years

A phenotypic female with mild mental retardation, minor facial anomalies, and short stature has been evaluated clinically and cytogenetically over 29 years. At age 59, she remains physically well and shows no signs of dementia. Cytogenetic analysis, performed on peripheral blood specimens on 10 occasions between 1961 and 1990, showed mosaicism with one cell line containing a large stable ring (15) chromosome and another cell line without the ring but with a 15qs +. The different cell lines remained constant. The case provides information on the natural history of the ring chromosome 15 syndrome.     

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males. However, different mutations in the same gene were reported to cause mental retardation, both in sporadic non-syndromic males as well as in syndromic families with disease manifestation in carrier females. The majority of the reported MECP2 mutations in mentally retarded patients cause amino acid substitutions and, especially in isolated cases, discrimination between a disease-causing mutation and a rare polymorphism is not obvious and the significance of each individual variation should be verified. We mapped a new non-syndromic X-linked family (MRX79) to the chromosomal region Xq27.3-Xq28 and identified an A140V mutation in the MEPC2 gene in all patients with the disease haplotype. In addition to data published by others, this suggests that A140V is a recurrent mutation (and not a polymorphism) found in patients with X-linked mental retardation.     

Skeletal dysplasia syndrome with progeroid appearance,characteristic facial and limb anomalies,multiple synostoses,and distinct skeletal changes: A variant example of the Lenz–Majewski syndrome

Here we report a 10 year-old mentally retarded, deaf boy with a unique pattern of anomalies: progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes. He represents a variant example of “hyperostotic dwarfism” as delineated by Lenz and Majewski.