TY - JOUR
T1 - Autism, language and communication in children with sex chromosome trisomies
AU - Bishop, Dorothy V M
AU - Jacobs, Patricia A.
AU - Lachlan, Katherine
AU - Wellesley, Diana
AU - Barnicoat, Angela
AU - Boyd, Patricia A.
AU - Fryer, Alan
AU - Middlemiss, Prisca
AU - Smithson, Sarah
AU - Metcalfe, Kay
AU - Shears, Deborah
AU - Leggett, Victoria
AU - Nation, Kate
AU - Scerif, Gaia
PY - 2011/10
Y1 - 2011/10
N2 - 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 profi les 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.
AB - 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 profi les 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.
UR - http://www.scopus.com/inward/record.url?scp=80052827372&partnerID=8YFLogxK
U2 - 10.1136/adc.2009.179747
DO - 10.1136/adc.2009.179747
M3 - Article
C2 - 20656736
AN - SCOPUS:80052827372
SN - 0003-9888
VL - 96
SP - 954
EP - 959
JO - Archives of Disease in Childhood
JF - Archives of Disease in Childhood
IS - 10
ER -