Search

In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive questions were associated with poorer inhibition and working memory. Stereotypy was associated with poorer inhibition. Adherence to routines was associated with poorer set-shifting, but only on the parental report measure. No other associations were evident. There is evidence of an association between specific repetitive behaviors and executive functioning in RTS, suggesting executive dysfunction may underpin behavioral difference in RTS. The findings point towards specific associations that are of interest for further research across populations in which repetitive behaviors are present.

Background: Williams syndrome anxiety research predominantly focuses on disorder prevalence and symptomatology, categorised using standardised mental health classifications. However, the use of these assessments may not fully capture the phenotypic features of anxiety in Williams syndrome. In this study, we examined characteristics of anxiety using a formulation framework. Method: A semi-structured interview was conducted with thirteen parents of individuals with Williams syndrome (median age: 19, age range: 12-45, 8 females). Results: Various anxiety triggers were reported, including anxiety triggered by phobias, uncertainty and negative emotions in others. The range of described behaviours was diverse with both avoidant and active coping strategies for anxiety management reported. Conclusions: Many of the characteristics described were consistent with findings in the intellectual disability and typically developing literature, although novel information was identified. The study demonstrates the utility of a formulation framework to explore anxiety characteristics in atypical populations and has outlined new avenues for research.

We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with FXS (p < 0.01) and RTS (p < 0.01) showed poorer quality of eye contact compared to individuals with CdLS. Individuals with FXS showed less person and more object attention than individuals with CdLS (p < 0.01). Associations between sociability and autism characteristics and chronological age differed between groups, which may indicate divergence in the development and aetiology of different components of sociability across these groups. Findings indicate that individuals with CdLS, FXS and RTS show unique profiles of sociability.

We delineate the sequence that typically developing infants pass tasks that assess different early social cognitive skills considered precursors to theory-of-mind abilities. We compared this normative sequence to performance on these tasks in a group of autistic (AUT) children. 86 infants were administered seven tasks assessing "intention reading" and "shared intentionality" (Study 1). Infants responses followed a consistent developmental sequence, forming a four-stage scale. These tasks were administered to 21 AUT children (Study 2), who passed tasks in the same sequence. However, performance on tasks that required following others' eye gaze and cooperating with others was delayed. Findings indicate that earlier-developing skills provide a foundation for later-developing skills, and difficulties in acquiring some early social cognitive skills in AUT children.

Self-harm is purportedly common in autistic individuals, but under-researched, particularly in younger samples and those "without" intellectual disability. This study aimed to describe prevalence, profile and correlates of self-harm in autistic individuals without impairments in adaptive functioning. Parents of autistic participants (n = 83) completed questionnaires regarding the presence/topography of self-harm, demographic characteristics, autism severity, age of diagnosis, affect, activity levels and repetitive behaviour. 24.10% of participants engaged in self-harm. Self-harm was associated with significantly higher levels of impulsivity, over-activity, negative affect, compulsive behaviour and insistence on sameness. Low mood and overactivity/impulsivity predicted the presence of self-harm, with the model correctly classifying 82.9% of cases. Findings highlight a role for impaired behavioural inhibition and low mood in the aetiological mechanisms underpinning self-harm in autism.

Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). The Social Anxiety and Motivation Rating Scale was employed whilst participants completed four social tasks, each administered separately by a familiar adult, and also by an unfamiliar adult. Compared to participants with DS, those with FXS and RTS exhibited high levels of social anxiety but similar levels of social motivation. Participants with CdLS showed heightened social anxiety and reduced social motivation only during interactions with an unfamiliar adult when active participation was voluntary.

Background: There is limited research into the nature and aetiology of temper outbursts in people with intellectual disabilities. In this study, we describe the phenomenology and environmental context of temper outbursts in Lowe syndrome, a rare genetic syndrome in which outbursts are purportedly frequent. Method: A temper outburst interview (TOI) was conducted with caregivers of seventeen individuals with Lowe syndrome to generate an account of the behavioural sequence, common antecedents and consequences of temper outbursts, and to enable comparisons with similar work on Prader-Willi syndrome. Results: Outbursts in Lowe syndrome were frequently triggered by thwarted goal-directed behaviour and were associated with high levels of physical aggression and property destruction. Conclusions: Form and sequence of outbursts showed similarities to Prader-Willi syndrome and to behaviours reported in literature on typically developing children. The results highlight the importance of considering shared aetiology as well as syndrome-specific pathways in the development of outbursts.

Self-injurious and aggressive behaviors are common in fragile X syndrome (FXS). However, little is known about the persistence of these behaviors and associated risk markers. We established the prevalence and persistence of self-injurious and aggressive behaviors over eight years in males with FXS, and associations with risk markers. Results showed 77% and 69% persistence rates for self-injurious and aggressive behavior, respectively. Baseline levels of repetitive behavior "predicted" persistent self-injurious behavior. Chronological age, impulsivity and overactivity were associated with persistent aggressive behavior but only impulsivity predicted persistence. This is the first study to document the persistence of self-injurious and aggressive behavior in FXS over the medium to long term and to identify behavioral risk markers that might facilitate targeted early intervention.

Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The proportion of individuals with Cornelia de Lange syndrome meeting criteria for autism spectrum disorder on the Autism Diagnostic Observation Schedule increased, although patterns of change were complex. For both syndrome groups, absolute levels of adaptive ability were stable and receptive language improved, suggesting that changes over time do not result from an overall decline in ability. Reliable change index scores indicate heterogeneity within both groups in the occurrence of improvement or decline.

It is well documented that mothers of children with challenging behavior (CB) experience elevated levels of stress and that this persists over time, but less is known about the experience of mothers of children with rare genetic syndromes. This article describes 2 studies, 1 cross-sectional and 1 longitudinal, comparing well-being in mothers of children with Angelman, Cornelia de Lange and Cri du Chat syndrome who have either shown chronic CB (n = 18) or low/no CB (n = 26) in the preceding 7 years. The presence of chronic, long-term CB increased maternal stress but not depression or anxiety, and did not influence positive well-being. Stress relating specifically to their child's genetic syndrome reduced with age, highlighting the need for further exploration in this area.

Background: Challenging behaviours are frequently shown by children with an intellectual disability. This study documents service use within this population and explores its relationship with challenging behaviours and child and parent characteristics.Method Forty-nine mothers of young children with an intellectual disability or global developmental delay completed questionnaires focusing on child behaviour, parental mental health, and service use. Results: Maternal mental health was not associated with services accessed. Cost of services accessed differed by topography of challenging behaviour for destruction of the environment or aggression. No differences were noted for self-injurious behaviour. Conclusion: In this small study, topography of challenging behaviour impacts on the frequency and/or duration (and therefore cost) of community-based health care accessed. Behaviours that have external impact, such as aggression and destruction of the environment, are associated with a higher cost of services used, a pattern not noted for behaviours that had less external impact (e.g., self-injurious behaviour).

Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. The results highlight divergent profiles of anxiety symptomatology between these groups.

Everyday executive function (EF) was examined in Smith-Magenis syndrome (SMS), associated with high risk of behaviour disorder, and Down syndrome (DS), associated with relatively low risk of behaviour disorder. Caregivers of 13 children with SMS and 17 with DS rated everyday EF using the Behavioral Rating Inventory of Executive Functioning-Preschool. Greater everyday EF deficits relative to adaptive ability were evident in SMS than in DS. The SMS profile of everyday EF abilities was relatively uniform; in DS emotional control strengths and working memory weaknesses were evident. Findings implicate broad everyday EF difficulties in SMS compared to DS, corresponding with increased rates of behaviour disorder in SMS. Findings further suggest that everyday EF profiles may, in part, be syndrome related.

Background: Recruitment is a widely cited barrier of representative intellectual disability research, yet it is rarely studied. This study aims to document the rates of recruiting children with intellectual disabilities using two methods and discuss the impact of such methods on sample characteristics. Methods: Questionnaire completion rates are compared between (i) participants being approached in child development centre waiting rooms and (ii), one year later, the same participants being invited to take part by phone, email and/or post. Results: The face-to-face recruitment method resulted in a better recruitment rate (58.5% compared to 18.5%) and a larger sample (n = 438) than the telephone/email/post sample (n = 40). It also required less hours of researcher time per completed questionnaire. Conclusions: In-line with previous research, recruitment of participants with intellectual disabilities (or their parents/carers) requires significant time and resources to get a sample of an acceptable size.

Self-injury is common in autism spectrum disorder (ASD); however few studies have investigated correlates of self-injury or the putative associations with self-restraint. Questionnaire data on self-injury, self-restraint, health conditions, overactivity/impulsivity and repetitive/restricted behavior were collected on 208 children and 216 adults with ASD (mean age = 24.10, range 6-61). Self-injury and self-restraint were frequent and significantly associated in both children (45.7% and 40.9%, p < 0.001) and adults (49.1, and 42.6%, p < 0.001). Severe self-injury was predicted by lower ability, health conditions and overactivity/impulsivity in children (p < 0.001) and repetitive/restricted behavior and overactivity/impulsivity in adults (p < 0.001). These data provide preliminary support for a developmental model of self-injury and self-restraint in which painful health conditions and compromised behavioral control influence the presence and trajectory of self-injury in ASD.

Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. Motivation in SMS was characterised by comparatively frequent social initiations when adult attention was low, and stronger preference for familiar adults, compared to DS. Findings provide insight into the nature of social motivation in SMS and support an argument for nuanced consideration of motivation.

Working memory (WM) impairments might amplify behavioural difference in genetic syndromes. Murine models of Rubinstein-Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in RTS. Individuals with RTS and typically developing children completed WM tasks, with participants with RTS completing an IQ assessment and parents/carers completing the Vineland Adaptive Behavior Scales. A cross-sectional trajectory analysis was conducted. There were significant WM span deficits in RTS relative to mental age. Verbal WM span was positively associated with mental age; however, this was not observed for visuo-spatial span. There is a dissociation between WM domains in RTS. Individuals may have difficulties with tasks relying on WM span, above difficulties predicted by overall ability.

Several neurodevelopmental disorders are associated with preference for routine and challenging behavior following changes to routines. We examine individuals with Prader-Willi syndrome, who show elevated levels of this behavior, to better understand how previous experience of a routine can affect challenging behavior elicited by disruption to that routine. Play based challenges exposed 16 participants to routines, which were either adhered to or changed. Temper outburst behaviors, heart rate and movement were measured. As participants were exposed to routines for longer before a change (between 10 and 80 min; within participants), more temper outburst behaviors were elicited by changes. Increased emotional arousal was also elicited, which was indexed by heart rate increases not driven by movement. Further study will be important to understand whether current intervention approaches that limit exposure to changes, may benefit from the structured integration of flexibility to ensure that the opportunity for routine establishment is also limited.

Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure Questionnaire (MIPQ) at Time 1 and 2 years later (Time 2). Scores on the MIPQ were significantly lower in the CdLS group compared with the CdCS and FXS groups at Time 1 and Time 2. Lower MIPQ scores were characteristic of older adolescents (> 15 years) and adults with CdLS. However, there were no significant differences in MIPQ scores between Time 1 and Time 2. Age and insistence on sameness predicted MIPQ scores in CdLS.

The aim of this study was to analyse statistically published data regarding the age related prevalence of aggression and self-injury in persons with intellectual disability. Studies including prevalence data for aggression and/or self-injury broken down by age band were identified and relative risk analyses conducted to generate indices of age related change. Despite conflicting results, the analysis conducted on included studies considered to be the most methodologically robust indicated that the relative risk of self-injury, and to a lesser extent aggression, increased with age until mid-adulthood, with some indication of a curvilinear relationship for self-injury. These conclusions have implications for the understanding of the development of different forms of challenging behaviour and the importance of early intervention strategies. (Contains 4 tables.)

An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n = 182, M age = 16.94), and autism spectrum disorder (n = 142, M age = 15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83.6% and 48.6% in Fragile X syndrome. Domain and item analyses indicate differing, atypical autism spectrum disorder profiles in Fragile X and Cornelia de Lange syndromes. A limited association between adaptive behavior and autism spectrum disorder was identified in all groups. The findings have implications for intervention in genetic syndromes and conceptualization of autism spectrum disorder in the wider population.

Background: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with ASD. Method: The Autism Diagnostic Observation Schedule (ADOS) was administered to 20 individuals with CdLS (mean age = 11.34; range = 6-13 years) and 20 individuals with idiopathic ASD (mean age = 10.42; range = 8-11 years). Participants were matched according to adaptive behaviour and receptive language skills. Results: Sixty-five percent (N = 13) of individuals with CdLS met the cut-off score for autism on the total ADOS score. Further analysis at domain and item level indicated that individuals with CdLS showed significantly less repetitive behaviour, (specifically sensory interests); more eye contact, more gestures and less stereotyped speech than the ASD group. The CdLS group also showed higher levels of anxiety. Conclusions: The comparison between CdLS and idiopathic ASD indicates subtle group differences in the profile of ASD symptomatology that are not accounted for by degree of intellectual disability or receptive language skills. These differences may not be evident when relying solely upon clinical and domain level scores, but may be distinguishing features of the ASD presentations in the two disorders. The findings have implications for the conceptualisation and assessment of ASD in individuals with genetic syndromes.

We evaluated the independent association between adaptive behavior, communication and repetitive or ritualistic behaviors and self-injury, aggression and destructive behavior to identify potential early risk markers for challenging behaviors. Data were collected for 943 children (4-18 years, M = 10.88) with severe intellectual disabilities. Odds ratio analyses revealed that these characteristics generated risk indices ranging from 2 to 31 for the presence and severity of challenging behaviors. Logistic regressions revealed that high frequency repetitive or ritualistic behavior was associated with a 16 times greater risk of severe self-injury and a 12 times greater risk of showing two or more severe challenging behaviors. High frequency repetitive or ritualistic behaviors independently predict challenging behavior and have the potential to be early risk markers for self-injury and aggression of clinical significance.

We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes.

Background: Informant-based assessment of behavioural change and difference in dementia in Down syndrome can aid diagnosis and inform service delivery. To date few studies have examined the impact of different types of behavioural change. Methods: The Assessment for Adults with Developmental Disabilities (AADS), developed for this study, assesses behavioural excesses (11 items) and deficits (17 items) associated with dementia. Inter-informant reliability, internal consistency and concurrent validity were evaluated and found to be robust. Results: A comparison of the AADS subscale scores for three groups (n = 12) of adults with Down syndrome demonstrated more frequent deficits and excesses and greater management difficulty and effects on the individual in a dementia group than age comparable and younger groups. Conclusion: The AADS is a promising dementia specific measure for people with intellectual disability. Further research should evaluate change as dementia progresses and the nature of management difficulty and effects on the individual.

Background: Self-injurious behaviour (SIB) is a relatively common problem for people with intellectual disabilities and it is known to be associated with various risk markers, such as degree of disability, sensory impairments, and autism (McClintock "et al." 2003). Less is known about its long-term course however. Method: The present study was conducted to examine the quality of life and changes in behaviour for a cohort of 49 people with intellectual disabilities and SIB who were all part of a previous total population study conducted in the south of England by Oliver, Murphy and Corbett (1987). Assessment tools used in the original study, and an additional quality of life measure, the Life Experience Checklist (Ager, 1990), were carried out with informants in the participant's homes or places of day activity. Results: The results show that 84% of the sample continued to self-injure nearly 20 years on, with no significant mean changes in number of topographies or severity of SIB across the group. No one was living in hospital in this study (cf. many individuals in the first survey) but for those who had moved out of hospital, their SIB had not reduced. More people were receiving psychological treatment; more were also receiving anti-convulsant and anti-psychotic medications, though polypharmacy had reduced somewhat. The number of people accessing full-time day activities had decreased substantially, with 44% of people only accessing structured daily activities for 2 1/2 days per week or less. Conclusions: The results of the study add to the growing evidence of extreme chronicity for SIB and the relative lack of impact of treatment for people in whom self-injury has become well-established. They imply that early intervention is essential if such behaviour is to be eliminated long term.

There is a substantial body of research indicating that compromised social functioning for individuals with intellectual disabilities has far reaching implications for quality of life, community participation and wellbeing. However, an inherent difficulty for research into social functioning is the lack of agreed definition of key concepts in the area. The current paper reviews definitions for four concepts related to the central concept of sociability (social cognition, social competence, social skills and social behaviour). By reviewing the definitions available in the wider social and cognitive psychology literature and comparing these to definitions provided in research with individuals with intellectual disabilities it is clear that concepts are poorly defined. The current article proposes working definitions which may be used give impetus to future debate in the area. The clinical implications of having implicitly understood concepts rather than definable and measurable traits are considered. The review calls for researchers to provide definitions for the concepts under investigation and their relationship to measures employed in research. (Contains 2 tables.)

We used experimental and descriptive functional analyses and lag sequential analyses to examine the functional and temporal relationship among the self-injurious (SIB), potentially injurious, repetitive, challenging, and pragmatic communicative behaviors of 6 children with intellectual disabilities. Functional analyses revealed social function for SIB, potentially injurious, and repetitive behaviors across 5, 4, and 5 participants, respectively. Sixteen functionally equivalent response classes were identified across participants using both experimental and naturalistic observation data. Repetitive, potentially injurious, and SIB behaviors were significantly temporally associated, and pragmatic communicative behaviors were strongly temporally associated with challenging behaviors. The importance of the temporal and functional relationship between imperative communicative acts and challenging behavior is discussed.

Background: Repetitive questions and temper outbursts form part of the behavioural phenotype of Prader-Willi syndrome (PWS). We investigated the phenomenology of temper outbursts in PWS and their relationship with other PWS behavioural characteristics. Method: Four individuals with PWS were observed (5-10 h), during a number of experimental and natural environment challenges, some of which were expected to trigger temper outbursts. Individual behaviours including crying, ignoring, arguing, questioning, stereotypy, frowning and posture changes were recorded and subjected to lag sequential analysis. Results: All participants were significantly more likely to show repetitive questioning before more challenging behaviours such as crying, arguing or ignoring requests. Precursor behaviours such as frowning and stereotypical behaviour were identified in three participants. Conclusions: Temper outbursts in PWS may be associated with other PWS behavioural phenotypic characteristics such as repetitive questions and "stubbornness". A progression of behaviours may lead up to the most challenging temper outburst behaviours. This may have important implications for effective coping strategies.

We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat (N = 58), Fragile X (N = 191), Prader-Willi (N = 189), Lowe (N = 56) and Smith-Magenis (N = 42) syndromes and individuals with intellectual disability of heterogeneous aetiology (N = 56). Repetitive behavior was variable across syndromes. Fragile X syndrome scored highly on all subscales. Angelman syndrome demonstrated a significantly lowered probability for most behaviors. Prader-Willi, Cri-du-Chat and Smith-Magenis syndrome evidenced unique profiles of repetitive behavior. There is extreme heterogeneity of repetitive behavior across genetic syndromes, highlighting syndrome specific profiles.

Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [SD = 3.6], respectively). Twenty-one participants with Cornelia de Lange syndrome (61.8%) scored above the autism cut-off on the Autism Diagnostic Observation Schedule compared to 9 with Cri du Chat syndrome (39.2%). Prevalence of autism spectrum disorder characteristics is heightened in Cornelia de Lange syndrome. The profile of characteristics is atypical to that of idiopathic autism.

The effects of a 3-day training course in the management of aggressive behavior in services for people with autism spectrum disorders were investigated using a quasi-experimental design. An experimental group received training over a 10-month period and a contrast group, which had received training before this study, did not. Staff training increased carer confidence, but there were no training effects of measures of staff coping, support or perceived control of challenging behaviors. Staff reports of service user challenging behavior management difficulties decreased in both the experimental and contrast groups. This study showed that staff training can increase staff confidence in managing aggression in people with autism spectrum disorders.

Background: Kinship theory (or the genomic conflict hypothesis) proposes that the phenotypic effects of genomic imprinting arise from conflict between paternally and maternally inherited alleles. A prediction arising for social behaviour from this theory is that imbalance in this conflict resulting from a deletion of a maternally imprinted gene, as in Angelman syndrome (AS), will result in a behavioural phenotype that should evidence behaviours that increase access to maternally provided social resources (adult contact). Method: Observation of the social behaviour of children with AS (n = 13), caused by a deletion at 15q11-q13, and a matched comparison group (n = 10) was undertaken for four hours in a socially competitive setting and the effect of adult attention on child behaviours and the effect of child smiling on adult behaviours evaluated using group comparisons and observational lag sequential analyses. Results: The AS group smiled more than the comparison group in all settings, which had different levels of adult attention, and more when the level of adult attention was high. Smiling by children with AS evoked higher levels of adult attention, eye contact and smiling both than by chance and in comparison to other children and this effect was sustained for 30s to 50s. Smiling by children with AS was frequently preceded by child initiated contact toward the adult. Discussion: The results are consistent with a kinship theory explanation of the function of heightened levels of sociability and smiling in Angelman syndrome and provide support for an emotion signalling interpretation of the mechanism by which smiling accesses social resources. Further research on other behaviours characteristic of Angelman and Prader-Willi syndromes warrant examination from this perspective.

Males with fragile X syndrome (FXS) have difficulties with social interaction and many show autistic features. This study examined whether the social deficits characteristic of FXS are associated with theory of mind difficulties. Two groups of boys with FXS participated: a group with few autistic features and a group with many autistic features. An intellectual disability control group also participated. In addition to using standard theory of mind tasks, new techniques were used that were able to separate out the various processing demands of the task (e.g., memory, inhibitory control). Overall, the findings indicate that both groups of boys with FXS have difficulty with theory of mind tasks compared to an intellectual disability control group. However, both groups with FXS also performed worse on comparison trials that required working memory but not theory of mind. Theory of mind difficulties are likely to be an important aspect of the FXS clinical profile, but are most likely the result from a more basic difficulty with working memory.

Using observational methods, we examined the social influences on laughing and smiling behavior in children with Angelman syndrome by systematically manipulating aspects of social interaction. Seven boys and 4 girls who were between 4 and 11 years of age and who had a confirmed maternal deletion of chromosome 15q11-q13 completed the study. Each child was observed while repeatedly exposed to three conditions in which parameters of social interaction were manipulated. Laughing and smiling behavior varied across all children and was significantly heightened in a condition involving adult speech, touch, smiling, laughing, and eye contact. The findings highlight the importance of examining environmental and social influences on purported phenotypic behavior in genetic syndromes.

Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16 children with this syndrome. For 9 participants engagement behavior was related to levels of adult attention, and SIB showed significant variability across conditions for 3 participants. These findings indicate that SIB can be affected by environmental factors, even though it is thought to be part of the behavioral phenotype of Cornelia de Lange syndrome and suggest that individuals with this syndrome show socially motivated attention-soliciting behaviors. The implications for gene-environment interactions are discussed.

Background: Health status is an important domain of quality of life of people with intellectual disabilities. This paper describes the development of a self-report health status measure for use with people with intellectual disabilities living in staffed community-based accommodation, and reports preliminary reliability data for the schedule. Method: Question and response items were adapted from a well-established measure (SF-36) used in the general population incorporating subscales such as General Health, Physical Functioning, Bodily Pain, Vitality, Mental Health, and Sensory Functioning. A variety of closed and open response formats were used based on the growing literature examining methods for interviewing people with intellectual disabilities. Results: Internal reliability and response consistency were investigated. Reliability for Physical Functioning, General Health and Bodily Pain was reasonable, but was unsatisfactory for Sensory Functioning, and Mental Health. Conclusions: The findings are discussed in light of the challenge of eliciting reliable responses from people with intellectual disabilities. Question methodologies can be built upon in further research.

The effect of increasing the number of stimuli to be recalled was investigated to evaluate whether sensitivity for memory impairment was enhanced in adults with Down syndrome when using higher task load. Three levels of load were compared across three groups of adults: those with cognitive deterioration, no cognitive deterioration over age 40, and no cognitive-deterioration under 40. The cognitive-deterioration group showed impaired performance in comparison to the no cognitive-deterioration--40+ group at all levels of task load, with performance declining over 4 years. The no cognitive-deterioration--40+ group showed no impairment in performance compared to no cognitive-deterioration--under 40 group, except when task load was high. Implications for identification of dementia and age-related cognitive change are discussed.

A study of 88 British individuals with developmental disabilities and self-injurious behavior found self-restraint was more prevalent in the group not wearing protective devices than in those wearing protective devices. Individuals not wearing protective devices showed a greater number of topographies of self-restraint than those who did wear them. (Contains references.) (Author/CR)

This study examined structural characteristics and environmental variables in the stereotypic behaviors of eight individuals with developmental disabilities. Findings indicated that structural characteristics (percentage of time, bout length, and bout length variability) were highly correlated. Also, stereotyped behaviors were more likely to occur under conditions of low stimulation and less likely during social contact. (Contains references.) (Author/DB)

Analysis of questionnaires completed by caregivers of 77 individuals with Cornelia de Lange syndrome in the United Kingdom found a significant association between self-injurious behaviors and self-restraint, and those displaying both behaviors displayed significantly more compulsions than did those not exhibiting them. Findings extend the compulsive behavior theory. (Contains references.) (Author/DB)

A study examined the variability of smiling and laughing behaviors of three children (ages 7-17) with Angelman syndrome. Results found laughing and smiling increased during social situations and occurred at low levels during non-social situations. The behaviors, therefore, did not occur totally inappropriately, as has been suggested. (Contains references.) (Author/CR)

The early development of self-injurious behavior (SIB) in 16 young children with developmental disabilities was tracked over an 18-month period. Naturalistic observations in each child's classroom found a significant association between early SIB and low levels of social contact, which may be considered as a risk marker for SIB exacerbation. Implications for early intervention for SIB are discussed. (Contains references.) (Author/DB)

Individuals with Down syndrome (n=49) were assigned to three groups: those showing cognitive deterioration, those comparable in age, and those not showing cognitive deterioration but younger. Those experiencing cognitive deterioration were less likely to receive day services, had more impoverished life experiences, and required more support. (Contains references.) (Author/CR)

A case study is used to argue that the function of the aggressive behavior of a young woman with severe mental retardation was to avoid or escape the termination of a chain of complex stereotyped ritual behaviors. This is an example of complex interaction between two behaviors and illustrates the need for very careful analysis of the functions of challenging behavior. (Contains extensive references.) (Author/DB)

This study examined the effects of introducing flexion into a straight-arm splint, on self-injurious behavior (SIB), self-restraint, adaptive behavior, and behavioral correlates of affect for three individuals with severe mental retardation. For two individuals, SIB was reduced to zero, while overall level of restriction was also significantly reduced. (Author/CR)

In this case study, interactions were examined between features of Rett syndrome and operant conditioning as determinants of self-injurious behavior (SIB). Analysis suggested different functions for two forms of SIB: automatic reinforcement by sensory stimulation and escape from social interactions. Features of Rett syndrome tended to maximize the operant conditioning of SIB. (Author/DB)