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.

Sex chromosome trisomies (SCTs) are frequently diagnosed, both prenatally and postnatally, but the highly variable childhood outcomes can leave parents at a loss on whether, when and how to disclose genetic status. In two complementary studies, we detail current parental practices, with a view to informing parents and their clinicians. Study 1 surveyed detailed qualitative data from focus groups of parents and affected young people with either Trisomy X or XYY (N = 34 families). These data suggested that decisions to disclose were principally affected by the child's level of cognitive, social and emotional functioning. Parents reported that they were more likely to disclose when a child was experiencing difficulties. In Study 2, standardised data on cognitive, social and emotional outcomes in 126 children with an SCT and 63 sibling controls highlighted results that converged with Study 1: logistic regression analyses revealed that children with the lowest levels of functioning were more likely to know about their SCT than those children functioning at a higher level. These effects were also reflected in the likelihood of parents to disclose to unaffected siblings, schools and general practitioners. In contrast, specific trisomy type and the professional category of the clinician providing the original diagnosis did not affect likelihood of disclosure. Our study emphasises the complex weighing up of costs and benefits that parents engage in when deciding whether to disclose a diagnosis.

Aim4q deletion syndrome is a rare structural chromosomal abnormality where a small segment on the long arm of chromosome 4 is missing. Affected children have minor facial and digital dysmorphisms, cardiac and skeletal defects, growth retardation and developmental delay. The aim of this pilot project was the development of an audio-visual education session for health professionals and lay people that provides useful information on this genetic disorder.MethodsA 1-hour podcast was recorded via telephone conferencing. Subsequently, a silent slide show including a relevant case presentation and general information on current genetic testing was prepared and added to the podcast.ResultsA panel of 5 experts in the field of genetics discussed questions that were submitted by 22 families affected by 4q deletion syndrome. In all, 38 people listened to the 1-hour podcast on the freely accessible file-hosting site kiwi6.com. The topics discussed covered clinical presentation, diagnosis, treatment and prognosis of this condition.ConclusionSupplying patients, parents and other health professionals with high-quality medical information in a timely manner is an imporant task for clinical geneticists. Modern communication technology combined with expert panel discussions can be an adjunct tool in the field of genetic counselling.

4q deletions are rare chromosome disorders (RCD), with an estimated incidence of 1:50,000-100,000 that is rising as a result of routine introduction of chromosomal microarray testing. The diagnosis of a 4q deletion, as of any RCD, confers a sense of exclusion, isolation and guilt on families with an affected child. Reliable information available to a lay audience is scant. To address these issues, Unique, the Rare Chromosome Disorder Support Group, hosted the first international meeting on 4q deletions. Families valued the opportunity to meet genetics and medical professionals with an interest in 4q deletions and to exchange information with each other. In this paper, we intend to summarize all the information presented in this study meeting.

Background and aims Thousands of babies are born each year with errors in the make-up of their chromosomes which can affect their development, learning and behaviour although the effects are variable. These changes frequently constitute a chromosome imbalance: extra or missing chromosome material. Until recently these chromosome aberrations were detected by microscopic karyotype analysis and submicroscopic deletions and duplications were missed. Molecular techniques such as microarray-based comparative genomic hybridisation (arrayCGH) can today identify previously undetectable microdeletions and microduplications, some causing new syndromes. ArrayCGH offers families greater hope of a genetic diagnosis for their child despite the limitations of all genetic tests. The diagnosis of a new syndrome can alert both clinicians and families to future health problems and ensure appropriate screening is in place. Additionally, arrayCGH usually identifies the missing or duplicated genes, potentially improving counselling. Methods Unique is a world-leading support group for families with a rare chromosome disorder (RCD). At November 2011, Unique has over 8,600 member families, representing more than 11,000 individuals. As diagnoses of RCDs increase, membership of Unique is also increasing. Results ArrayCGH offers clinicians faced with a child with non-specific developmental delay, cognitive impairment or challenging behaviour a 20 percent diagnostic rate (compared to 7 percent with karyotype analysis). This has led to a rise of over 100 percent in new members joining Unique annually in the period 2008 to 2010 (the period that arrayCGH was rolled out). For the 870 members joining Unique in November 2010-October 2011 arrayCGH was the most common genetic test used to diagnose their genetic disorder. Many are unique disorders, not previously reported in the medical literature. In response to this, Unique has produced 19 new medically-verified guides on microdeletions and microduplications. Information guides are compiled from the medical literature; from Unique's database and other publicly available databases; and from detailed surveys completed by member families. Conclusion The rapid increase in diagnosis of RCD made possible by arrayCGH has led to a steep rise in membership of Unique. We continue to publish new information guides in response to this, including newly-emerging microdeletion and microduplication syndromes.