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1.  When words fail us: insights into language processing from developmental and acquired disorders 
Acquired disorders of language represent loss of previously acquired skills, usually with relatively specific impairments. In children with developmental disorders of language, we may also see selective impairment in some skills; but in this case, the acquisition of language or literacy is affected from the outset. Because systems for processing spoken and written language change as they develop, we should beware of drawing too close a parallel between developmental and acquired disorders. Nevertheless, comparisons between the two may yield new insights. A key feature of connectionist models simulating acquired disorders is the interaction of components of language processing with each other and with other cognitive domains. This kind of model might help make sense of patterns of comorbidity in developmental disorders. Meanwhile, the study of developmental disorders emphasizes learning and change in underlying representations, allowing us to study how heterogeneity in cognitive profile may relate not just to neurobiology but also to experience. Children with persistent language difficulties pose challenges both to our efforts at intervention and to theories of learning of written and spoken language. Future attention to learning in individuals with developmental and acquired disorders could be of both theoretical and applied value.
doi:10.1098/rstb.2012.0403
PMCID: PMC3866430  PMID: 24324244
aphasia; dyslexia; specific language impairment; cognitive neuropsychology; connectionist models; development
2.  Preface 
doi:10.1098/rstb.2013.0564
PMCID: PMC3866433  PMID: 24324247
3.  Autism, language and communication in children with sex chromosome trisomies 
Archives of disease in childhood  2010;96(10):954-959.
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.
doi:10.1136/adc.2009.179747
PMCID: PMC3182523  PMID: 20656736
4.  Form–meaning links in the development of visual word recognition 
Learning to read takes time and it requires explicit instruction. Three decades of research has taught us a good deal about how children learn about the links between orthography and phonology during word reading development. However, we have learned less about the links that children build between orthographic form and meaning. This is surprising given that the goal of reading development must be for children to develop an orthographic system that allows meanings to be accessed quickly, reliably and efficiently from orthography. This review considers whether meaning-related information is used when children read words aloud, and asks what we know about how and when children make connections between form and meaning during the course of reading development.
doi:10.1098/rstb.2009.0119
PMCID: PMC2846312  PMID: 19933139
word reading; children's reading; orthography; word learning
5.  A case of exceptional reading accuracy in a child with Down syndrome: Underlying skills and the relation to reading comprehension 
Cognitive Neuropsychology  2006;23(8):1190-1214.
We report on a case of a girl with Down syndrome (DS), K.S., whose reading accuracy is exceptional. This ability is associated with robust phonological skills and relative strengths in visual and verbal short-term memory, articulation, and speech fluency. Although her reading comprehension is age appropriate when it comes to the retention of literal information, K.S. has some difficulties in using knowledge-based inferences in reading comprehension. Reading comprehension in that sense is at a level commensurate with her oral language skills. Her reading performance parallels that of children with reading comprehension difficulties who do not have DS. This reading profile is in contrast with claims that individuals with DS mainly use sight-word strategies in reading and shows that the phonological pathway can be highly proficient in a child with DS. However, even in a case such as K.S. where reading accuracy is good, functional literacy is constrained by limited comprehension skills.
doi:10.1080/02643290600787721
PMCID: PMC2817561  PMID: 21049374
6.  Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review* 
Aim
To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs).
Method
A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0.
Results
We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs lived independently. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Within each group there was much variation.
Interpretation
Individuals with SCTs are at risk of cognitive and behavioural difficulties. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples.
doi:10.1111/j.1469-8749.2009.03545.x
PMCID: PMC2820350  PMID: 20059514

Results 1-6 (6)