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Autism, language and communication in children with sex chromosome trisomies

Bishop, Dorothy V M ; Jacobs, Patricia A ; Lachlan, Katherine ; Wellesley, Diana ; Barnicoat, Angela ; Boyd, Patricia A ; Fryer, Alan ; Middlemiss, Prisca ; Smithson, Sarah ; Metcalfe, Kay ; Shears, Deborah ; Leggett, Victoria ; Nation, Kate ; Scerif, Gaia

Archives of disease in childhood, 2011-10, Vol.96 (10), p.954-959 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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Título:
Autism, language and communication in children with sex chromosome trisomies
Autor: Bishop, Dorothy V M ; Jacobs, Patricia A ; Lachlan, Katherine ; Wellesley, Diana ; Barnicoat, Angela ; Boyd, Patricia A ; Fryer, Alan ; Middlemiss, Prisca ; Smithson, Sarah ; Metcalfe, Kay ; Shears, Deborah ; Leggett, Victoria ; Nation, Kate ; Scerif, Gaia
Assuntos: Autism ; Biological and medical sciences ; Child ; Child clinical studies ; Child Development Disorders, Pervasive - genetics ; Child Development Disorders, Pervasive - psychology ; Childhood communication disorders ; Communicative disorders in children ; Company distribution practices ; Demographic aspects ; Developmental disorders ; Distribution ; Education, Special ; Educational Status ; Female ; General aspects ; Humans ; Infantile autism ; Karyotyping ; Language Development Disorders - genetics ; Language Development Disorders - therapy ; Language Therapy ; Male ; Medical sciences ; Miscellaneous ; Prenatal diagnosis ; Prenatal Diagnosis - methods ; Prevention and actions ; Psychology. Psychoanalysis. Psychiatry ; Psychometrics ; Psychopathology. Psychiatry ; Public health. Hygiene ; Public health. Hygiene-occupational medicine ; Sex Chromosome Aberrations ; Sex chromosome abnormalities ; Speech Therapy ; Trisomy
É parte de: Archives of disease in childhood, 2011-10, Vol.96 (10), p.954-959
Notas: PMID:20656736
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Descrição: 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.
Editor: London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Idioma: Inglês

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Autism, language and communication in children with sex chromosome trisomies

Bishop, Dorothy V M ; Jacobs, Patricia A ; Lachlan, Katherine ; Wellesley, Diana ; Barnicoat, Angela ; Boyd, Patricia A ; Fryer, Alan ; Middlemiss, Prisca ; Smithson, Sarah ; Metcalfe, Kay ; Shears, Deborah ; Leggett, Victoria ; Nation, Kate ; Scerif, Gaia

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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