Autism, language and communication in children with sex chromosome trisomies
2010/07/23 by D. V. M. Bishop, Dorothy Bishop, P. A. Jacobs +23 · 26 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Sexual Differentiation and Disorders #Prenatal Screening and Diagnostics
paper · doi:10.1136/adc.2009.179747
Abstract
PURPOSE: Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3-3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue. DESIGN: Parents of children with a SCT were recruited either via prenatal screening or via a parental support group, to give a sample of 58 XXX, 19 XXY and 58 XYY cases. Parents were interviewed using the Vineland Adaptive Behavior Scales and completed questionnaires about the communicative development of children with SCTs and their siblings (42 brothers and 26 sisters). RESULTS: Rates of language and communication problems were high in all three trisomies. Diagnoses of autism spectrum disorder (ASD) were found in 2/19 cases of XXY (11%) and 11/58 XYY (19%). After excluding those with an ASD diagnosis, communicative profiles indicative of mild autistic features were common, although there was wide individual variation. CONCLUSIONS: Autistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD.
Cited by
- 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment
- The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). [europepmc]
- Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesis. [europepmc]
- Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes. [europepmc]
- Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders. [europepmc]
- Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. [europepmc]
- Sex differences in autism spectrum disorders. [europepmc]
- 47,XYY syndrome: clinical phenotype and timing of ascertainment. [europepmc]
- Mouse model systems to study sex chromosome genes and behavior: relevance to humans. [europepmc]
- A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome. [europepmc]
- Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features. [europepmc]
- Developmental neurogenetics and multimodal neuroimaging of sex differences in autism. [europepmc]
- Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. [europepmc]
- Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. [europepmc]
- Potential Sex Differences Relative to Autism Spectrum Disorder and Metals. [europepmc]
- Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies. [europepmc]
- The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes. [europepmc]
- Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study. [europepmc]
- A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY). [europepmc]
- Language phenotypes in children with sex chromosome trisomies. [europepmc]
- A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention. [europepmc]
- The behavioral profile of children aged 1-5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY). [europepmc]
- Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention. [europepmc]
- Profiling of Sexually Dimorphic Genes in Neural Cells to Identify Eif2s3y , Whose Overexpression Causes Autism-Like Behaviors in Male Mice. [europepmc]
- Sex differences in the human brain: a roadmap for more careful analysis and interpretation of a biological reality. [europepmc]
- Between Dysbiosis, Maternal Immune Activation and Autism: Is There a Common Pathway? [europepmc]
Related