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Background: Despite the established knowledge that recurrent copy number variants (CNVs) at the 16p11.2 locus BP4–BP5 confer risk for behavioural and language difficulties, limited research has been conducted on the association between behavioural and social–communicative profiles. The current study aims to further delineate the prevalence, nature and severity of, and the association between, behavioural and social–communicative features of school‐aged children with 16p11.2 deletion syndrome (16p11.2DS) and 16p11.2 duplication (16p11.2Dup). Methods: A total of 68 individuals (n = 47 16p11.2DS and n = 21 16p11.2Dup) aged 6–17 years participated. Standardised intelligence tests were administered, and behavioural and social–communicative skills were assessed by standardised questionnaires. Scores of both groups were compared with population norms and across CNVs. The influence of confounding factors was investigated, and correlation analyses were performed. Results: Compared with the normative sample, children with 16p11.2DS showed high rates of social responsiveness (67%) and communicative problems (69%), while approximately half (52%) of the patients displayed behavioural problems. Children with 16p11.2Dup demonstrated even higher rates of social–communicative problems (80–90%) with statistically significantly more externalising and overall behavioural challenges (89%). In both CNV groups, there was a strong positive correlation between behavioural and social–communicative skills. Conclusions: School‐aged children with 16p11.2 CNVs show high rates of behavioural, social responsiveness and communicative problems compared with the normative sample. These findings point to the high prevalence of autistic traits and diagnoses in these CNV populations. Moreover, there is a high comorbidity between behavioural and social–communicative problems. Patients with difficulties in both domains are vulnerable and need closer clinical follow‐up and care. [ABSTRACT FROM AUTHOR]

Background: Neurocognitive functioning is an integral phenotype of 22q11.2 deletion syndrome relating to severity of psychopathology and outcomes. A neurocognitive battery that could be administered remotely to assess multiple cognitive domains would be especially beneficial to research on rare genetic variants, where in‐person assessment can be unavailable or burdensome. The current study compares in‐person and remote assessments of the Penn computerised neurocognitive battery (CNB). Methods: Participants (mean age = 17.82, SD = 6.94 years; 48% female) completed the CNB either in‐person at a laboratory (n = 222) or remotely (n = 162). Results: Results show that accuracy of CNB performance was equivalent across the two testing locations, while slight differences in speed were detected in 3 of the 11 tasks. Conclusions: These findings suggest that the CNB can be used in remote settings to assess multiple neurocognitive domains. [ABSTRACT FROM AUTHOR]

Background: Most individuals with 22q11.2 deletion syndrome (22q11DS) have multi‐system and lifelong needs requiring substantial support. Their primary caregivers are usually family members who dedicate lifelong time and effort to their role. The pressures of their roles can negatively impact caregivers' psychosocial well‐being, suggesting a need for additional support for this community who currently have no specialised interventions available. Method: This online study surveyed 103 caregivers of family members with 22q11DS to determine the barriers to accessing support that they faced, the kind of support they would value and whether an online intervention could meet their needs. Results: The caregivers indicated that a brief online intervention focused on teaching practical skills and connecting them with a peer network of support would be most valuable. Conclusions: Future studies are planned that will build on these results by designing and testing online interventions tailored to this community. [ABSTRACT FROM AUTHOR]

Background: The world has suffered immeasurably during the COVID‐19 pandemic. Increased distress and mental and medical health concerns are collateral consequences to the disease itself. The Genes to Mental Health (G2MH) Network consortium sought to understand how individuals affected by the rare copy number variations of 22q11.2 deletion and duplication syndrome, associated with neurodevelopmental/neuropsychiatric conditions, were coping. The article focuses on worry and disruptions in medical care caused by the pandemic. Methods: The University of Pennsylvania COVID‐19 Stressor List and care disruption questions were circulated by 22 advocacy groups in English and 11 other languages. Results: A total of 512 people from 23 countries completed the survey; most were caregivers of affected individuals. Worry about family members acquiring COVID‐19 had the highest average endorsed worry, whilst currently having COVID‐19 had the lowest rated worry. Total COVID‐19 worries were higher in individuals completing the survey towards the end of the study (later pandemic wave); 36% (n = 186) of the sample reported a significant effect on health due to care interruption during the pandemic; 44% of individuals (n = 111) receiving care for their genetic syndrome in a hospital setting reported delaying appointments due to COVID‐19 fears; 12% (n = 59) of the sample reported disruptions to treatments; and of those reporting no current disruptions, 59% (n = 269) worried about future disruptions if the pandemic continued. Higher levels of care disruptions were related to higher COVID‐19 worries (Ps < 0.005). Minimal differences by respondent type or copy number variation type emerged. Conclusions: Widespread medical care disruptions and pandemic‐related worries were reported by individuals with 22q11.2 syndrome and their family members. Reported worries were broadly consistent with research results from prior reports in the general population. The long‐term effects of COVID‐19 worries, interruptions to care and hospital avoidance require further study. [ABSTRACT FROM AUTHOR]

Background Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a genetic syndrome characterised by a unique cognitive profile. Individuals with the syndrome present several non-verbal deficits, including visual memory impairments and atypical exploration of visual information. In this study, we seek to understand how visual attention may contribute to memory difficulties in 22q11.2DS by tracking eye movements during the encoding phase of a visual short-term memory task. Method Eye movements were recorded during a computerised version of the multiple-choice Benton Visual Retention Test, which consisted of exploring and then recognising complex visual stimuli. Seventy-four participants affected by 22q11.2DS were compared with 70 typically developing participants. Results Participants with 22q11.2DS performed less well than healthy controls on the task and spent more time and fixations on the principal (larger central) figures and less time and fixations on the smaller peripheral figures within the stimuli. Conclusions This study is the first to investigate visual attention in 22q11.2DS during a memory task. The results delineate impaired processes during encoding that affect visual memory performance. The findings may be especially useful for informing interventions intended to boost visual learning in patients with 22q11.2DS. [ABSTRACT FROM AUTHOR]

Background Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Methods Eighty-two children participated in four study groups: WS ( n = 18), 22q112.DS ( n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls ( n = 20). Participants completed four socio-cognitive tests: facial emotion recognition, mental state attribution, differentiating real from apparent emotions and trait inference based on motives and actions-outcomes. Results The current findings demonstrate that children with WS were better in labelling happy faces compared with children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared with the 22q11.2DS group, possibly due to their difficulty to interpret subtle social cues. When asked to identify the gap between real-negative vs. apparent-positive emotions, the 22q11.2DS group performed similarly to TD children but better than the WS group, possibly due to their anxious personality and their innate bias towards negatively valence cues. Finally, individuals with WS were more willing to become friends with a story character even when the character's motives were negative, reflecting their difficulty to avoid potentially harmful real-life situations. Conclusions Overall, our multi-facet socio-cognitive battery uncovered strengths and weaknesses in social cognition that are syndrome-specific, shared among the genetic syndromes, or common to the three clinical groups compared with healthy controls. Our findings underscore the need to devise age-specific and condition-specific assessment tools and intervention programs towards improving these children's socio-cognitive deficits. [ABSTRACT FROM AUTHOR]

Background 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. However, there is little research examining the effect of this multisystem disorder on the family, particularly siblings. The current study was a phenomenological exploration of sense-making in siblings of a person with 22q11.2DS. Method Interpretative phenomenological analysis informed a detailed and open examination of being a sibling of a person with 22q11.2DS. Using in-depth semistructured interviews, five typically developing siblings (two men, three women) of people with 22q11.2DS were individually interviewed, providing the data set for transcription and thematic analysis. Results The theme ' They are the priority' overarched two subordinate themes that emerged from participants' descriptions of the struggle with acceptance and finding positive meaning. Participants oscillated between conflicting feelings about their sibling with 22q11.2DS always taking centre stage. For example, they felt anger, guilt and resentment; yet, they also embraced patience, empathy and gratitude. Conclusions This phenomenological study provides a foundation for future research relating to 22q11.2DS and fostering family wellbeing, particularly around acceptance and psychological growth. The siblings in this study actively withdrew from their family to allow prioritisation of their affected sibling. However, this does not mean that their needs should be overlooked. There are easily accessible resources to support siblings of individuals with disabilities, and it is important for health professionals and parents to consider these options. [ABSTRACT FROM AUTHOR]

Background 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that can impact an individual's overall academic performance, potentially resulting in increased levels of stress and exacerbation of psychiatric symptoms. Methods A total of 119 participants were included in this study. Sixty-nine late adolescents with 22q11DS and 50 controls (consisting of a combined sample of 23 unaffected siblings of youth with 22q11DS and 27 community controls) participated in a 6-year longitudinal research project and received neuropsychological test batteries every 3 years. The Written Expression subtest of the Wechsler Individual Achievement Test - Second Edition was the primary outcome measure in the current project. Results Findings indicated differences in childhood predictors of adolescent written expression between participants in the 22q11DS group and participants in the control group. Whereas childhood verbal IQ scores predicted adolescent written expression for participants in the control group, childhood executive function and language skills were unique predictors of adolescent written expression in individuals with 22q11DS. Conclusions Childhood predictors of late adolescent written expression in 22q11DS differ in meaningful ways from predictors in the non-22q11DS population. These results offer some guidance on the underlying factors that may be useful to consider when developing written expression interventions for children with 22q11DS. [ABSTRACT FROM AUTHOR]

Introduction The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic syndrome. Individuals affected by this syndrome present poor social functioning and a high risk for the development of psychiatric disorders. Accurate emotion recognition and visual exploration of faces represent important skills for appropriate development of social cognition in individuals with 22q11DS. For these reasons, there is elevated interest in establishing relevant ways to test the mechanisms associated with emotion recognition in patients with 22q11DS. Methods This study investigated emotional recognition and visual exploration of emotional faces in persons with 22q11DS, with a dynamic emotion task using an eye-tracking device. To our knowledge, no previous studies have used emotional dynamic stimuli with 22q11DS, despite improved ecological validity of dynamic stimuli compared with static images. Furthermore, these stimuli provide the opportunity to collect reaction times, as indicators of the emotional intensity necessary for identifying each emotion. Results In our task, we observed comparable accuracy in emotion recognition in the 22q11DS and healthy control groups. However, individuals with 22q11DS were slower to recognise the emotions. They also spent less time looking at the nose during happy and fearful faces. Conclusions These results suggest that individuals with 22q11DS may need either more time or more pronounced emotional cues to correctly label facial expressions. [ABSTRACT FROM AUTHOR]

Background Children with chromosome 22q11.2 deletion syndrome ( 22q11DS) often have deficits in social cognition and social skills that contribute to poor adaptive functioning. These deficits may be of relevance to the later occurrence of serious psychiatric illnesses such as schizophrenia. Yet, there are no evidence-based interventions to improve social cognitive functioning in children with 22q11DS. Methods Using a customised social cognitive curriculum, we conducted a pilot small-group-based social cognitive training ( SCT) programme in 13 adolescents with 22q11DS, relative to a control group of nine age- and gender-matched adolescents with 22q11DS. Results We found the SCT programme to be feasible, with high rates of compliance and satisfaction on the part of the participants and their families. Our preliminary analyses indicated that the intervention group showed significant improvements in an overall social cognitive composite index. Conclusions SCT in a small-group format for adolescents with 22q11DS is feasible and results in gains in social cognition. A larger randomised controlled trial would permit assessment of efficacy of this promising novel intervention. [ABSTRACT FROM AUTHOR]

Background Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11 DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship between social functioning and more basic processes of social cognition and executive functioning are not well understood in 22q11 DS. The present study examined the relationship between social-cognitive measures of emotion attribution and theory of mind with executive functioning and their contribution to social competence in 22q11 DS. Method The present cross-sectional study measured social cognition and executive performance of 24 adolescents with 22q11 DS compared with 27 age-matched typically developing controls. Social cognition was tested using the emotion attribution task ( EAT) and a picture sequencing task ( PST), which tested mentalising (false-belief), sequencing, cause and effect, and inhibition. Executive functioning was assessed using computerised versions of the Tower of London task and working memory measures of spatial and non-spatial ability. Social competence was also assessed using the parent-reported Strengths and Difficulties Questionnaire. Results Adolescents with 22q11 DS showed impaired false-belief, emotion attribution and executive functioning compared with typically developing control participants. Poorer performance was reported on all story types in the PST, although, patterns of errors and response times across story types were similar in both groups. General sequencing ability was the strongest predictor of false-belief, and performance on the false-belief task predicted emotion attribution accuracy. Intellectual functioning, rather than theory of mind or executive functioning, predicted social competence in 22q11 DS. Conclusions Performance on social-cognitive tasks of theory of mind indicate evidence of a general underlying dysfunction in 22q11 DS that includes executive ability to understand cause and effect, to logically reason about social scenarios and also to inhibit responses to salient, but misleading cues. However, general intellectual ability is closely related to actual social competence suggesting that a generalised intellectual deficit coupled with more specific executive impairments may best explain poor social cognition in 22q11 DS. [ABSTRACT FROM AUTHOR]

Background The 22q11.2 deletion syndrome (22q11 DS; velo-cardio-facial syndrome) is associated with an increased risk of various disorders, including autism spectrum disorder ( ASD) and attention deficit hyperactivity disorder ( ADHD). With this study, we aimed to investigate the relation between intellectual functioning and severity of ASD and ADHD symptomatology in 22q11 DS. Method A sample of 102 individuals (62 females) with 22q11 DS aged 9 to 18.5 years were assessed using age appropriate Wechsler scales of intelligence as well as psychological and psychiatric assessment to evaluate the presence of ASD and ADHD symptomatology. Results Intelligence profiles were characterised by lower scores on the factor perceptual organisation and higher scores on the factor processing speed, with on subtest level higher scores on digit span and lower scores on arithmetic and vocabulary as compared with the mean factor or subtest score respectively. No differences in intelligence profiles were found between subgroups with and without ASD and/or ADHD. Low scores on coding were associated with higher severity of ASD symptomatology, while lower scores on block design were associated with more severe ADHD symptomatology. Conclusions On several sub-domains of intelligence, poorer performance was associated with higher severity of ASD and ADHD symptomatology. The impact of developmental disorders in 22q11 DS can be traced in specific domains of intellectual functioning as well as in severity of symptomatology. [ABSTRACT FROM AUTHOR]

Background Research suggests children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability. While the experiences parents have at diagnosis may influence their decision to disclose the diagnosis to their children, there is little research into this communication. The aim of the current study was to examine the relationship between the diagnosis experience and the disclosure experience for parents of children with developmental disorders of a known genetic aetiology: parents of children with 22q11.2 deletion syndrome (22q11 DS) were compared with a group of parents with children affected with other genetic diagnoses, with a similar age of diagnosis (e.g. fragile X syndrome) and a group where diagnosis generally occurs early (i.e. Down syndrome). Method The sample comprised 559 parents and caregivers of children with genetic developmental disorders, and an online survey was utilised. Items from the questionnaire were combined to create variables for diagnosis experience, parental disclosure experience, child's disclosure experience, and parental coping and self-efficacy. Results Across all groups parents reported that the diagnosis experience was negative and often accompanied by a lack of support and appropriate information. Sixty-eight per cent of those in the 22q11 DS and 58.3% in the Similar Conditions groups had disclosed the diagnosis to their child, whereas only 32.7% of the Down syndrome group had. Eighty-six per cent of the Down syndrome group felt they had sufficient information to talk to their child compared with 44.1% of the Similar Conditions group and 32.6% of the 22q11 DS group. Parents reported disclosing the diagnosis to their child because they did not want to create secrets; and that they considered the child's age when disclosing. In the 22q11 DS and Similar Conditions groups, a poor diagnosis experience was significantly associated with negative parental disclosure experiences. In the Similar Conditions group, a poor diagnosis experience was also significantly associated with a more negative child disclosure experience. Conclusions As expected this study highlights how difficult most parents find the diagnosis experience. Importantly, the data indicate that the personal experiences the parents have can have a long-term impact on how well they cope with telling their child about the diagnosis. It is important for clinicians to consider the long-term ramifications of the diagnosis experience and give the parents opportunities; through, for instance, psychoeducation to prepare for telling their child about the diagnosis. Further research is warranted to explore what type of information would be useful for parents to receive. [ABSTRACT FROM AUTHOR]

Background The primary objective of the current study was to examine the childhood predictors of adolescent reading comprehension in velo-cardio-facial syndrome ( VCFS). Although much research has focused on mathematics skills among individuals with VCFS, no studies have examined predictors of reading comprehension. Methods 69 late adolescents with VCFS, 23 siblings of youth with VCFS and 30 community controls participated in a longitudinal research project and had repeat neuropsychological test batteries and psychiatric evaluations every 3 years. The Wechsler Individual Achievement Test - 2nd edition ( WIAT-II) Reading Comprehension subtest served as our primary outcome variable. Results Consistent with previous research, children and adolescents with VCFS had mean reading comprehension scores on the WIAT-II, that were approximately two standard deviations below the mean and word reading scores approximately one standard deviation below the mean. A more novel finding is that relative to both control groups, individuals with VCFS demonstrated a longitudinal decline in reading comprehension abilities yet a slight increase in word reading abilities. In the combined control sample, WISC-III FSIQ, WIAT-II Word Reading, WISC-III Vocabulary and CVLT- C List A Trial 1 accounted for 75% of the variance in Time 3 WIAT-II Reading Comprehension scores. In the VCFS sample, WISC-III FSIQ, BASC-Teacher Aggression, CVLT- C Intrusions, Tower of London, Visual Span Backwards, WCST Non-perseverative Errors, WIAT-II Word Reading and WISC-III Freedom from Distractibility index accounted for 85% of the variance in Time 3 WIAT-II Reading Comprehension scores. A principal component analysis with promax rotation computed on the statistically significant Time 1 predictor variables in the VCFS sample resulted in three factors: Word reading decoding/Interference control, Self-Control/Self-Monitoring and Working Memory. Conclusions Childhood predictors of late adolescent reading comprehension in VCFS differ in some meaningful ways from predictors in the non- VCFS population. These results offer some guidance for how best to consider intervention efforts to improve reading comprehension in the VCFS population. [ABSTRACT FROM AUTHOR]

Background 22q11 deletion syndrome (22q11 DS) is associated with mild or borderline intellectual disability ( ID). There are hardly any reports on subjects with 22q11 DS with moderate or severe ID, and therefore its behavioural and psychiatric characteristics are unknown. Method We describe behavioural and psychiatric characteristics of 33 adults with 22q11 DS and a Full- Scale IQ ( FSIQ) below 55. Participants were divided into two groups: one group having a FSIQ ≤ 55 caused by intellectual decline ( n = 21) and one group with a FSIQ ≤ 55 who had always functioned at this level ( n = 12). Results High scores on psychopathology sub-scales were found for both subgroups. 22q11 DS patients with intellectual decline showed higher rates of co-morbid psychopathology, particularly psychosis. Furthermore, psychosis and intellectual decline were positive correlated. Conclusion This is the first report addressing adult patients with 22q11 DS and moderate to severe ID. Overall we found high levels of psychopathology with higher scores of psychopathology in the intellectual decline group. Life time psychosis seems to be related to deterioration. [ABSTRACT FROM AUTHOR]

Background 22q11.2 deletion syndrome (22q11.2 DS) is a common genetic subtype of intellectual disability ( ID) remarkable for its constellation of congenital, developmental and later-onset features. Survival to adulthood is now the norm, and serious psychiatric illness is common in adults. However, little is known about the experiences and perceived needs of individuals with 22q11.2 DS and their caregivers at time of transition from paediatric to adult models of care and beyond. Method We administered a mail survey to 84 caregivers of adults with 22q11.2 DS and 34 adult patients themselves, inquiring about medical and social services, perceived burden and major challenges in adulthood in 22q11.2 DS. Standard quantitative and qualitative methods were used to analyse the responses. Results Fifty-three (63.1%) caregivers and 20 (58.8%) adults with 22q11.2 DS completed the survey. Perceived burden was high, with psychiatric illness and/or behavioural issues considered the most challenging aspects of adulthood in 22q11.2 DS by the majority of caregivers (70.0%) and many patients themselves (42.9%). Irrespective of the extent of ID and the presence or absence of other major features, caregivers expressed dissatisfaction with medical and social services for adults, including at time of transition from paediatric care. Conclusions To our knowledge, this is the first study to examine the subjective experiences of adults with 22q11.2 DS and their caregivers and to identify their perceived needs for services. Better awareness of 22q11.2 DS and its later-onset manifestations, early diagnosis and treatment of psychiatric illness, additional support at time of transition and dedicated clinics for adults with 22q11.2 DS may help to improve patient outcomes and reduce caregiver burden. [ABSTRACT FROM AUTHOR]

Background Children with 22q11.2 deletion syndrome (22q11 DS) are at risk for social-behavioural and neurocognitive sequelae throughout development. The current study examined the impact of family environmental characteristics on social-behavioural and cognitive outcomes in this paediatric population. Method Guardians of children with 22q11 DS were recruited through two medical genetics clinics. Consenting guardians were asked to complete several questionnaires regarding their child's social, emotional and behavioural functioning, as well as family social environment and parenting styles. Children with 22q11 DS were asked to undergo a cognitive assessment, including IQ and achievement testing, and measures of attention, executive function and memory. Results Modest associations were found between aspects of the family social environment and parenting styles with social-behavioural and cognitive/academic outcomes. Regression models indicated that physical punishment, socioeconomic status, parental control and family organisation significantly predicted social-behavioural and cognitive outcomes in children with 22q11 DS. Conclusion Characteristics of the family social environment and parenting approaches appear to be associated with functional outcomes of children with 22q11 DS. Understanding the impact of environmental variables on developmental outcomes can be useful in determining more effective targets for intervention. This will be important in order to improve the quality of life of individuals affected by 22q11 DS. [ABSTRACT FROM AUTHOR]

The article presents abstracts on medical topics which include relationship between autism spectrum disorder, theory of mind and the Serotonin transporter promoter length polymorphism, social reinforcement analysis in Angelman syndrome and tuberous sclerosis registry to increase disease awareness.

Background Recent advances in genetics are particularly relevant in the field of intellectual disability (ID), where sub-microscopic deletions or duplications of genetic material are increasingly implicated as known or suspected causal factors. Data-driven reports on the impact of providing an aetiological explanation in ID are needed to help justify widespread use of new and expensive genetic technologies. Methods We conducted a survey of caregivers on the value of a genetic/aetiologic diagnosis of 22q11.2 deletion syndrome (22q11.2DS), the most common microdeletion syndrome in ID. We also surveyed the opinion of a high-functioning subset of adults with 22q11.2DS themselves. We used standard quantitative and qualitative methods to analyse the responses. Results In total, 73 of 118 surveys were returned (61.9%). There was convergence of quantitative and qualitative results, and consistency between adult patient and caregiver responses. A definitive molecular diagnosis of 22q11.2DS was a critical event with diverse positive repercussions, even if occurring later in life. Frequently cited benefits included greater understanding and certainty, newfound sense of purpose and a platform for advocacy, and increased opportunities to optimise medical, social and educational needs. Conclusions This is the first study to characterise the impact of a diagnosis of this representative microdeletion syndrome on adult patients and their families. The results both validate and expand on the theoretical benefits proposed by clinicians and researchers. The use of genome-wide microarray technologies will provide an increasing number of molecular diagnoses. The importance of a diagnosis of 22q11.2DS demonstrated here therefore has implications for changing attitudes about molecular genetic diagnosis that could benefit individuals with ID of currently unknown cause and their families. [ABSTRACT FROM AUTHOR]

The article presents abstracts on intellectual disability research topics, which include the clinical features and history of Wolf-Hirschhorn syndrome (WHS), Williams Syndrome, or Williams-Beuren syndrome, and the developmental objectives in 22QII Deletion Syndrome.

22q11 Deletion Syndrome (22q11DS) is a relatively common interstitial deletion disorder with a minimum prevalence of approximately 1:5000 live births. Although considerable phenotypic variability occurs, common clinical features include a typical dysmorphology, cleft palate, congenital heart defects and a characteristic behavioural phenotype. While much of the literature has focussed on the well documented association between 22q11DS and schizophrenia, there is now increasing attention on the prevalence of autistic spectrum disorders (ASD) in 22q11DS. The current evidence implicating ASD in 22q11DS and the implications for the clinical management of affected individuals will be discussed. [ABSTRACT FROM AUTHOR]