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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The developmental history of a 14-year-old male with Klinefelter's syndrome (XXXXY) is described. A review of the XXXXY literature focuses on the physical complications and the mental deficiency associated with this syndrome. This case study describes an individual whose physical development is consistent with many patterns described in the XXXXY literature, although his retardation is not as severe as generally described. His personality and learning style are more similar to descriptions of XXY Klinefelter individuals. A detailed analysis of more XXXXY cases is essential to clarify developmental patterns and learning capacity in individuals with XXXXY syndrome. Severe retardation may no longer need to be the anticipated developmental outcome.
J Autism Dev Disord 1988 Sep
PMID:Brief report: a case study of an adolescent male with XXXXY Klinefelter's syndrome. 317 Apr 60

Since the original work of Myklebust et al., the concept of a syndrome of nonverbal learning disabilities (NLD) has undergone considerable development and expansion, most notably in the work of Rourke. These authors have proposed a model of white matter dysfunction, predominantly in the right cerebral hemisphere, which is thought to underlie the cognitive and behavioral impairments seen in individuals with NLD. Recent research has focused on assessing the applicability of Rourke's conceptualization of the NLD syndrome and the white matter model to various neurologic, neurodevelopmental, and genetic disorders. This paper highlights recent investigations of the NLD model with respect to velocardiofacial syndrome, Klinefelter syndrome, high functioning autism, neuro-fibromatosis type I, and metachromatic leukodystrophy, and also provides a brief discussion of recent conceptualizations of the NLD model in the broader context of disorders of social and emotional functioning, and of other novel avenues of NLD research.
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PMID:Recent developments in the application of the nonverbal learning disabilities model. 1223 Sep 60

Executive skills are those involved in concept formation, problem solving, switching tasks, inhibiting inappropriate responses, initiating rapid and fluent responses, planning and sustained attention. Different patterns of disorder amongst these skills have been found in several developmental abnormalities including autism, attention deficit hyperactivity disorder (ADHD) and Turner's syndrome (TS). This study explored, for the first time, executive skills in children with Klinefelter's syndrome (KS), a sex chromosome abnormality in which there is one or more additional X-chromosomes. Intelligence in KS is normal but there is academic underachievement. A battery of executive tasks was administered, in a series of case studies, to three 10-year-old boys with KS and to controls matched for age, sex and intelligence. The results demonstrate that children with KS have impairments in executive skills. However, the pattern of impairment is task-specific. There is evidence from multiple tasks of impairment in inhibitory skills, for each case of KS. In contrast, concept formation, problem solving, task switching and speeded responding are normal. These results support theories that argue for distinct sub-components of executive skills within development that may develop relatively independently. The results have relevance for modelling both child and adult executive systems. They also confirm that an additional X-chromosome has highly selective effects upon the consequent cognitive phenotype seen in development.
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PMID:Executive skills in Klinefelter's syndrome. 1284 73

A population-based survey was conducted among 152,732 Finnish children and adolescents aged under 16 years and living in northern Finland. Diagnoses and associated medical conditions were derived from the hospital and institutional records of this area. One hundred and eighty-seven children with DSM-IV autistic disorder were identified. Associated medical disorders or associated disorders of known or suspected genetic origin were found in 12.3 percent, including tuberous sclerosis, Down syndrome, fragile X syndrome, Klinefelter syndrome, XYY syndrome, chromosome 17 deletion, chromosome 46, XX, dup(8) (p) and mitochondriopathy. Other associated medical disorders identified were epilepsy, hydrocephalus, foetal alcohol syndrome and cerebral palsy. Hearing impairments were found in 8.6 percent and severe impairment of vision in 3.7 percent of the individuals with autistic disorder. Medical disorders seem to have a special impact on the genesis of autistic disorder and need to be thoroughly examined in each child with autistic disorder.
Autism 2004 Mar
PMID:Associated medical disorders and disabilities in children with autistic disorder: a population-based study. 1507 May 47

Studying Klinefelter syndrome (47,XXY), a genetically defined disorder characterized by the presence of an additional X chromosome, can reveal insights into genotype-phenotype associations. Increased vulnerability to psychiatric disorders characterized by difficulties in social interactions, such as schizophrenia and autism, has been reported for this population. The reported social difficulties in 47,XXY men may arise as a consequence of impairments in the processing of social and emotional information. The present study is the first investigation of social-emotional information processing in this X chromosomal disorder. 32 Klinefelter men and 26 men from the general population, with the groups matched for age, educational level and I.Q., participated in the study. Several tasks were included, reflecting aspects of social-emotional information processing on levels of perception, experience and expression: labeling of facial expressions of emotion, emotion-cognition interactions in decision making and emotion regulation, that refers to subjective experience and identification of emotional arousal as well as verbal expression of emotions. A discrepancy between cognitive appraisal of emotions and emotional arousal was observed in Klinefelter syndrome. Taken together, Klinefelter men seem less accurate in perception of socio-emotional cues such as angry facial expressions, they are less able to identify and verbalize their emotions, but experience increased levels of emotional arousal, in comparison to the general population. Besides describing the social-emotional phenotype of this X chromosomal disorder, the present data may prove to be an important contribution to the development of more general models describing pathways to neuropsychiatric disorders characterized by social cognitive disturbances.
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PMID:X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47,XXY). 1660 40

Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, repetitive/compulsive tendencies, poor social skills, and language delays. A multidisciplinary evaluation concluded that the patient met full criteria for autism. A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 duplication. The potential implication with regard to autism spectrum disorders has not been previously discussed in the literature.
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PMID:Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report. 1831 9

Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24 and 20 control men respectively. XXY men reported increased distress during social interactions and less engagement in specific social behaviors. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype. These findings call for a clinical investigation of vulnerability to autism in Klinefelter syndrome. Klinefelter syndrome might serve as a model for studying a role of the X chromosome in social behavioral dysfunction and autism-like behavior.
J Autism Dev Disord 2008 Oct
PMID:Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome. 1832 63

I review and evaluate genetic and genomic evidence salient to the hypothesis that the development and evolution of psychotic spectrum conditions have been mediated in part by alterations of imprinted genes expressed in the brain. Evidence from the genetics and genomics of schizophrenia, bipolar disorder, major depression, Prader-Willi syndrome, Klinefelter syndrome, and other neurogenetic conditions support the hypothesis that the etiologies of psychotic spectrum conditions commonly involve genetic and epigenetic imbalances in the effects of imprinted genes, with a bias towards increased relative effects from imprinted genes with maternal expression or other genes favouring maternal interests. By contrast, autistic spectrum conditions, including Kanner autism, Asperger syndrome, Rett syndrome, Turner syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome, commonly engender increased relative effects from paternally expressed imprinted genes, or reduced effects from genes favouring maternal interests. Imprinted-gene effects on the etiologies of autistic and psychotic spectrum conditions parallel the diametric effects of imprinted genes in placental and foetal development, in that psychotic spectrum conditions tend to be associated with undergrowth and relatively-slow brain development, whereas some autistic spectrum conditions involve brain and body overgrowth, especially in foetal development and early childhood. An important role for imprinted genes in the etiologies of psychotic and autistic spectrum conditions is consistent with neurodevelopmental models of these disorders, and with predictions from the conflict theory of genomic imprinting.
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PMID:Genomic imprinting in the development and evolution of psychotic spectrum conditions. 1878 62

Recognized cases of autism spectrum disorders are on the rise. It is unclear whether this increase is attributable to secular trends in biological susceptibility, or to a change in diagnostic practices and recognition. One hint concerning etiological influences is the universally reported male excess (in the range of 4:1 to 10:1). Evidence suggests that genetic influences from the X chromosome play a crucial role in engendering this male vulnerability. In this review, we discuss three categories of genetic disease that highlight the importance of X-linked genes in the manifestation of an autistic phenotype: aneuploides (Turner syndrome and Klinefelter syndrome), trinucleotide expansions (Fragile X syndrome) and nucleotide mutations (Rett Syndrome, Neuroligins 3 & 4, and SLC6A8). The lessons from these diseases include an understanding of autistic features as a broad phenotype rather than as a single clinical entity, the role of multiple genes either alone or in concert with the manifestation of autistic features, and the role of epigenetic factors such as imprinting and X-inactivation in the expression of disease severity. Better understanding of the clinical phenotypes of social cognition and the molecular neurogenetics of X-linked gene disorders will certainly provide additional tools for understanding autism in the years to come.
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PMID:Autism-lessons from the X chromosome. 1898 5

The behavioral phenotype of 47,XXY (Klinefelter syndrome) includes increased risks for developmental delays, language-based learning disabilities, executive dysfunction/ADHD, and socialemotional difficulties. However there is significant variability between individuals with 47,XXY, and many children and adolescents have minimal or no behavioral features while others have quite significant involvement. This paper describes behavioral features in a cohort of 57 children and adolescents with 47,XXY, including results on standardized measures of behavior (BASC-2), attention (Conner's Rating Scales), and social skills (Social Responsiveness Scale). A subset was directly assessed for autism spectrum disorders using the ADOS and ADIR. We discuss our results within the context of previous literature, including implications for genetic counseling, recommendations for care, and areas for future research.
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PMID:The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). 2121 7


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